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Gene: Il15 MGI:103014

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Gene Summary

Name:
interleukin 15
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Il15tm1b(EUCOMM)Hmgu HOM Early adult 6.40×10-05
impaired glucose tolerance Il15tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-05
limb grasping Il15tm1b(EUCOMM)Hmgu HOM Early adult 2.62×10-11
enlarged heart Il15tm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

16 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

View images

Human diseases caused by Il15 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Il15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... OMIM:615897
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin... OMIM:618261
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... OMIM:615592
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... OMIM:619802
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthrit... OMIM:619510
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr... OMIM:617514
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... OMIM:212050
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genital... OMIM:602450
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin... OMIM:620210
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decrea... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Impaired... OMIM:613179
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent upper respirat... OMIM:619752
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Decreased circulating antibody level,... OMIM:613101
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal cent... ORPHA:277
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Enterocolitis, Anemi... OMIM:616050
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Panhypogamma... OMIM:601457
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... ORPHA:169160
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 22
Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract inf... OMIM:615758
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Dec... ORPHA:33355
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter... OMIM:193670
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Adre... OMIM:609981
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... OMIM:102700
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:275
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... OMIM:240500
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Failure... OMIM:242860
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infect... OMIM:618048
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Recurrent ea... ORPHA:221139
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Recurrent respiratory infections, Increased circulating IgE leve... OMIM:615767
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... OMIM:300635
Immunodeficiency 25
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Recurrent pneumon... OMIM:615122
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Fo... OMIM:614470
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Primary Intestinal Lymphangiectasia
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease... ORPHA:90362
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... OMIM:607624
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Thrombocytope... OMIM:613011
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... OMIM:608233
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abscess formation, P... OMIM:619381
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Bloom Syndrome
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... ORPHA:125
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In... OMIM:301000
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Recurrent infections, Hypospadias, Decreased circul... OMIM:301045
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased r... OMIM:615577
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... OMIM:242700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Increased circu... OMIM:601859
Ataxia-Telangiectasia
Recurrent respiratory infections, Lymphopenia, Abnormal testis morphology, Decreased circulating ... ORPHA:100
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... OMIM:209950
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... OMIM:619693
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... OMIM:226990
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... OMIM:301078
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Le... OMIM:619652
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Recurrent infections, Decreased circulating total IgM, Failure t... OMIM:620040
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... OMIM:275350
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Failure to thrive, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Splenomegaly, Obesity, Recurrent infections, Decreas... OMIM:605309
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... ORPHA:158048
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulating antibody... ORPHA:100024
Schnitzler Syndrome
Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Arthriti... ORPHA:37748
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Lymphopenia, Myositis, Skin rash, Increased circulating IgA lev... OMIM:615934
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Dec... ORPHA:353298
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, He... OMIM:603553
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Lymphadenop... OMIM:617827
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... ORPHA:158061
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Recurrent lower respiratory trac... OMIM:617744
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism, Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal n... ORPHA:3392
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Recurrent infections, Agammaglobulinemia, Decreased circulating anti... OMIM:616910
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... OMIM:620133
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... OMIM:210900
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... ORPHA:90045
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Recurrent infe... OMIM:617591
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Female hypogonadism, ... OMIM:208900
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small scrotum, Small for gestational age, Hypospadias, Cryptorchidism, Recurre... OMIM:607143
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... OMIM:615952
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Immunodeficiency 40
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... OMIM:616433
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... ORPHA:83313
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... OMIM:618131
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Leukocyto... OMIM:617099
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Recurr... OMIM:620005
Netherton Syndrome
Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Eczema, Allergic ... OMIM:256500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro... ORPHA:66628
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Lymp... ORPHA:507
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro... ORPHA:179494
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Recurrent viral infections, Recurrent pneumonia, Weight l... ORPHA:420741
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Small for gestational age, Decreased circulating IgA level OMIM:215250
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Mogs-Cdg
External genital hypoplasia, Hepatosplenomegaly, Decreased circulating antibody level, Decreased ... ORPHA:79330
Griscelli Syndrome
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibod... ORPHA:381
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia OMIM:617425
Xq28 (MECP2) duplication
Recurrent respiratory infections, Failure to thrive, Decreased circulating IgA level DECIPHER:45
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Increased circulating IgG4 level, Incr... ORPHA:449400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hormone stimulati... ORPHA:293978
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Lambert Syndrome
Branchial anomaly, Failure to thrive in infancy, Hypospadias, Decreased circulating antibody level ORPHA:1296
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Recurrent infectio... OMIM:615688
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Decreased circulating antibody level, Iron deficiency anemia, Intestinal ly... OMIM:226300
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Severe infection ORPHA:206594
Prolidase Deficiency
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Re... OMIM:170100
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Zika Virus Disease
Maculopapular exanthema, Skin rash, Meningitis, Increased circulating IgM level, Arthritis, Conju... ORPHA:448237
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Sepsis, Hepatitis, Leukopenia, Increased circulating... ORPHA:319218
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Severe infection, Rec... ORPHA:2686
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Small for gestational age, Impaired T cell function, Minimal change glomerulonephrit... ORPHA:1830
Cowden Syndrome 1
Thyroiditis, Recurrent infections, Hydrocele testis, Decreased circulating antibody level, Ovaria... OMIM:158350
Sézary Syndrome
Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte m... ORPHA:3162
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Lymphopenia... OMIM:242840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Severe i... OMIM:304790
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... ORPHA:723
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... OMIM:615387
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Medial calcification of large arteries, T lymphocytopenia, Infectious encephali... ORPHA:391487
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Myotonic Dystrophy 2
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... OMIM:602668
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr... OMIM:617303
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of... ORPHA:90186
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower ... OMIM:615966
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple... OMIM:613385
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... OMIM:612840
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Alg12-Cdg
Recurrent respiratory infections, Hypospadias, Partial absence of specific antibody response to H... ORPHA:79324
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia,... OMIM:251260
Brucellosis
Liver abscess, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious encep... ORPHA:1304
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Men... ORPHA:37042
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... OMIM:248500
Angiostrongyliasis
Increased circulating IgA level, Unusual CNS infection, Hypereosinophilia, Increased circulating ... ORPHA:74
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i... ORPHA:634
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Dystonia, Hypertrophic cardiomyopathy OMIM:614702
Smith-Kingsmore Syndrome
Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia, Decreased circulat... OMIM:616638
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Recurrent candida infections, Hypogonadism, Failure to th... OMIM:201100
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Amenorrhea, Decreased circulating antibody level ORPHA:1445
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... ORPHA:83617
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent respiratory infections, Hemolytic anemia, Reticulocyto... OMIM:618278
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Ne... ORPHA:99843
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Syndromic Diarrhea
Small for gestational age, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent inf... ORPHA:84064
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:306400
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Cystic Echinococcosis
Invasive parasitic infection, Unusual infection, Abscess, Eosinophilia, Abnormality of the testis... ORPHA:400
Lassa Fever
Increased circulating IgM level, Menometrorrhagia, Conjunctivitis, Sepsis ORPHA:99824
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Recurrent infections, Failure to thrive, Decreased circulating... OMIM:613327
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Recurrent hypoglycemia, Endocardial fibroelastosis, I... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Glucose intolerance, Cardiomyopathy OMIM:235200
Hennekam Syndrome
Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating... ORPHA:2136
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... ORPHA:1493
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abnormality of the... ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Annular pancreas, Eczema OMIM:618162
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pneumonia, Thrombocytope... ORPHA:781
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent aphthous s... OMIM:212750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... ORPHA:505248
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity, Decreased circulating total IgM, Decreased circu... ORPHA:369837
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Decreased circulating antibody level,... ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Tick-Borne Encephalitis
Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu... ORPHA:297
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c... ORPHA:2137
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Sepsis, Recurrent infections, Decreased circulating antibody level, Fa... ORPHA:79396
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Splenomegaly, Recurrent infectio... ORPHA:33226
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA lev... ORPHA:2298
Lysinuric Protein Intolerance
Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Decr... ORPHA:470
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T ... ORPHA:3132
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... OMIM:256040
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Small for gestational age, Hypergonado... ORPHA:2959
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Increased circulat... ORPHA:77259
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Sepsis, Abnorma... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... ORPHA:70578
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... ORPHA:449395
Rift Valley Fever
Skin rash, Thrombocytopenia, Severe viral infection, Hepatitis, Uveitis, Increased circulating Ig... ORPHA:319251
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Recurre... OMIM:617718
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Dubowitz Syndrome
Aplastic anemia, Eczema, Hypospadias, Cryptorchidism, Recurrent infections, Acute lymphoblastic l... OMIM:223370
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Enl... ORPHA:449432
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy ORPHA:391428
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Large for gestational age, Hypospadias, Decreased circulating IgA level ORPHA:457485
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Recurrent infections, Keratoconjunctivitis sicca, Hypogonadism, Erythr... OMIM:601675
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Cryptorchidis... ORPHA:33364
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... ORPHA:171
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic... OMIM:212065
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Splenomegaly, Iridoc... OMIM:181000
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Hemolytic anemia, Acute colitis... ORPHA:544482
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Generalized... OMIM:615846
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal gl... ORPHA:79078
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Recurrent infections, Interrupted a... OMIM:192430
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly OMIM:255120
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Congenital Disorder Of Glycosylation, Type Iib
Hypoplastic female external genitalia, Decreased circulating IgA level, Decreased circulating ant... OMIM:606056
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomegaly ORPHA:42
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-dependent cytokines... OMIM:612132
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Primary Biliary Cholangitis
Increased circulating IgA level, Hepatitis, Gastrointestinal inflammation, Increased circulating ... ORPHA:186
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... ORPHA:77261
Japanese Encephalitis
Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ... ORPHA:79139
Trichohepatoenteric Syndrome 1
Small for gestational age, Hypospadias, Increased mean platelet volume, Splenomegaly, Large place... OMIM:222470
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Congenital Analbuminemia
Small for gestational age, Recurrent lower respiratory tract infections, Increased circulating an... ORPHA:86816
Monosomy 18Q
Bilateral cryptorchidism, Left aortic arch with right descending aorta and right ductus arteriosu... ORPHA:1600
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Small for gestational age, Allergic rhinitis, Impaired T cell fu... OMIM:176690
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, L... ORPHA:99829
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Oligomenorrhea, Primary amenorrhea, Decreased cir... OMIM:604928
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, ... ORPHA:449427
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Erythema nodosum, Splenomegaly, Leukoc... ORPHA:99827
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Spina bifida, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenome... OMIM:274000
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Cardiomyopathy, Hyperglycemia ORPHA:465508
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Cartilage-Hair Hypoplasia
Spinal dysraphism, Decreased circulating antibody level, Neutropenia, Failure to thrive, Anemia ORPHA:175
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Umbilical hernia, Failure ... OMIM:617062
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Recurrent upper respiratory tract infections, Decreased circulating antibody level OMIM:618183
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly OMIM:268800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly OMIM:105210
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Biliary hyperplasia, Splenomegaly, Abnormality of cytokine secretion, ... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Distal Deletion 19P
Umbilical hernia, Vaginal hernia, Decreased circulating antibody level ORPHA:96129
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Keratitis, Orchitis, Incr... ORPHA:449563
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Failure to thrive in infancy, Anemia, Decreased circulating antibody level ORPHA:247598
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Enlarg... OMIM:608836
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Sponastrime Dysplasia
Small for gestational age, Hypospadias, Precocious puberty, Recurrent pneumonia, Decreased circul... ORPHA:93357
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy OMIM:614921
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... OMIM:261740
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus OMIM:608013
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality ... ORPHA:567
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Abnormal myocardium morphology, Hypoketotic hypoglycemia ORPHA:228308
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W... ORPHA:91500
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Thyro... ORPHA:64744
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Fucosidosis
Splenomegaly, Hepatomegaly, Dystonia, Cardiomegaly OMIM:230000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Septate vagina, Ut... ORPHA:2237
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Viss Syndrome
Chronic gastritis, Abnormal branching pattern of the aortic arch, Left aortic arch with retroesop... OMIM:619472
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Tremor, Hepatosplenomegaly, Dystonia, Hypertrophic cardiomyopathy ORPHA:51
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Pulmonary artery sling, Septate vagina, Asplenia, Cryptorchidism, Rec... ORPHA:261537
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, L... OMIM:300967
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Pulmonary artery sling, Septate vagina, Asplenia, Cryptorchidism, Ent... ORPHA:2152
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... OMIM:300855
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly ORPHA:137675
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarg... OMIM:130650
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Pulmonary artery sling, Septate vagina, Asplenia, Cryptorchidism, Rec... ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Secretory IgA deficiency, Recurrent infections,... ORPHA:500150
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Splenomegaly, Hypertrophic cardi... ORPHA:116
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Il15

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Il15.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
IL-2 and IL-15 drive intrathymic development of distinct periphery-seeding CD4+Foxp3+ regulatory T lymphocytes. Frontiers in immunology (September 2022) Il15tm1c(EUCOMM)Hmgu PMC9495261
Skeletal muscle antagonizes antiviral CD8+ T cell exhaustion. Science Advances (June 2020) Il15tm1c(EUCOMM)Hmgu PMC7292629
T Cell Factor 1 Suppresses CD103+ Lung Tissue-Resident Memory T Cell Development. Cell reports (April 2020) Il15tm1b(EUCOMM)Hmgu 32268106

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Il15tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Il15tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Il15tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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