Gene Summary

Name:
IKAROS family zinc finger 3
Synonyms:
Aiolos,  5830411O07Rik,  Zfpn1a3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased lymphocyte cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 8.39×10-15
increased neutrophil cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 4.10×10-07
thrombocytopenia Ikzf3tm1(KOMP)Vlcg HOM Early adult 1.33×10-05
decreased large unstained cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 8.01×10-05
decreased leukocyte cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 6.62×10-14

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images heterozygote 0.0% (0 of 4)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images homozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images homozygote Ambiguous
Kidney  Wholemount images heterozygote 75% (3 of 4)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote Ambiguous
Liver  Wholemount images heterozygote 0.0% (0 of 4)
Lung  Wholemount images heterozygote 0.0% (0 of 4)
Lymph node  Wholemount images heterozygote 100% (4 of 4)
Lymph node  Wholemount images homozygote 100% (2 of 2)
Main olfactory bulb  Wholemount images homozygote 0.0% (0 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (4 of 4)
Mesenteric lymph node  Wholemount images homozygote 100% (2 of 2)
Oral epithelium  Wholemount images homozygote 0.0% (0 of 2)
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Parathyroid gland  Wholemount images heterozygote Ambiguous
Parathyroid gland  Wholemount images homozygote Ambiguous
Parotid gland  Wholemount images heterozygote 0.0% (0 of 4)
Parotid gland  Wholemount images homozygote 0.0% (0 of 2)
Peyer's patch  Wholemount images heterozygote 100% (4 of 4)
Peyer's patch  Wholemount images homozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images homozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote 0.0% (0 of 4)
Prostate gland  Wholemount images homozygote Not available
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images homozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote Ambiguous
Sublingual gland  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images homozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images homozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 0.0% (0 of 4)
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Trachea  Wholemount images heterozygote 0.0% (0 of 4)
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote 0.0% (0 of 2)
Uterus  Wholemount images heterozygote Not available
Uterus  Wholemount images homozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 4)
Brain N/A homozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brainstem N/A homozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A homozygote 0.0% (0 of 2)
Colon N/A heterozygote Ambiguous
Colon N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Diaphragm N/A homozygote 0.0% (0 of 2)
Duodenum N/A homozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Esophagus N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A homozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A homozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A homozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Pancreas N/A homozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 4)
Penis N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A homozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Ambiguous
Small intestine N/A homozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 4)
Striatum N/A homozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Thymus N/A homozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 4)
Tongue N/A homozygote 0.0% (0 of 2)
Trachea N/A homozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A homozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 4)
Vagina N/A homozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A homozygote 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
Embryo N/A heterozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forearm N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Upper arm N/A heterozygote 0.0% (0 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
chest bone Unavailable
colon 15.44% (21 of 136)
cranium
diaphragm 0.0%
duodenum 2.99% (4 of 134)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.73% (1 of 137)
heart 0.35% (2 of 571)
hindlimb 0.0%
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
ileum 14.71% (20 of 136)
jejunum 8.82% (12 of 136)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 312)
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.52% (3 of 582)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
tongue 3.62% (5 of 138)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.45% (17 of 382)
vascular system 0.0%
vesicular gland 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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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

168 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Embryo LacZ

LacZ images wholemount

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Ikzf3 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.

The table below shows human diseases associated to Ikzf3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437

The table below shows human diseases predicted to be associated to Ikzf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... OMIM:617006
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Hepatomegaly, Reduced natural killer cell activity, Decreased circulating complemen... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Abnormality of humoral immuni... ORPHA:277
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgM level, Antinuclear antibody positivity, Hepatosplenomegaly, Mediastinal... OMIM:618534
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... OMIM:613496
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... OMIM:618944
Immunodeficiency 24
Lymphoproliferative disorder, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, De... OMIM:615897
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Autoimmune Lymphoproliferative Syndrome
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:601859
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... ORPHA:567544
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Facial papilloma, Autoimmune thrombocytopen... OMIM:619220
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... OMIM:614420
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Autoimmunity, C3 nephritic factor positivity, Chronic kidney di... ORPHA:329918
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Herpes simplex encephalitis, Increased circu... OMIM:618982
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:603909
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... OMIM:619375
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Perinuclear antineutrophil antibody positivity, Decreased... OMIM:618394
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Rheumatoid factor positive, Histiocytosis, Increased ci... OMIM:209950
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Renal insufficiency, Nephrotic syndrome, Recurrent pneumonia, Decreased ci... OMIM:613779
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic a... OMIM:618495
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Rheumatoid factor positive, Red... OMIM:619632
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... ORPHA:3261
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Anti-beta-2-Glycoprotein... OMIM:618048
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Colitis, Recurrent urinary tract infections, Hepatosplenomegaly, Lym... OMIM:619802
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Systemic lupus erythematos... OMIM:613652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Autoimmunity, Skin ra... ORPHA:331206
Transcobalamin Deficiency
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Methylmalo... ORPHA:859
Igg4-Related Aortitis
Hydronephrosis, Cytoplasmic antineutrophil antibody positivity, Hypereosinophilia, Autoimmunity, ... ORPHA:449400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym... OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Autoimmunity, Increased circulating antibody level, Hemolytic anemi... OMIM:614470
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... ORPHA:169154
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Thymoma
Autoimmunity, Pure red cell aplasia, Neoplasm, Aplastic anemia, Neoplasm of the lung, Neoplasm of... ORPHA:99867
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Rec... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... OMIM:613502
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Eczema, Autoimmune hemolytic anemia... OMIM:616100
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Fulminant hepatitis, Antinuclear antibod... ORPHA:2137
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Immunodeficiency 70
Decreased circulating total IgM, Verrucae, Colitis, Decreased circulating total IgA, Decreased ci... OMIM:618969
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Verrucae, Atopic dermatitis, Increased circulating IgE level, Recurrent bac... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine... OMIM:102700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Decreased specific anti-polysaccharide antibody level, Mediastinal ... OMIM:300853
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutrop... OMIM:304790
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... OMIM:617514
Immunodeficiency 95
Recurrent viral pneumonia, Increased circulating IgG3 level, Lymphopenia, Decreased circulating I... OMIM:619773
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Decreased cir... OMIM:619281
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Immunodeficiency, Common Variable, 2
Lymphoma, Neoplasm, Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Impaired T cell ... OMIM:240500
Cernunnos-Xlf Deficiency
Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating ant... ORPHA:169079
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Decreased circulating total IgM, Leukopenia, Hepatomegaly, Ly... OMIM:620210
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Hemophagocytosis, Colitis, Fulminant hepatitis, Histiocytosis, Increas... ORPHA:2442
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Hematuria OMIM:314000
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... OMIM:617638
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Selective Igm Deficiency
Chronic sinusitis, Autoimmunity, Decreased specific antibody response to vaccination, Decreased p... ORPHA:331235
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... ORPHA:443811
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... OMIM:606367
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Chronic m... ORPHA:90280
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... OMIM:614700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... OMIM:615513
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 22
Decreased circulating total IgM, Autoimmunity, Anemia, Abscess, Decreased circulating IgA level, ... OMIM:615758
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Autoimmunity, Glomerulopathy, Decreased circulating complemen... ORPHA:79087
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased circulating complement C4 concentration, Systemi... OMIM:614380
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmunity, Stomatitis, Leukopenia, Anemia, Autoimmune thrombocyt... OMIM:613011
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Eczema, Redu... OMIM:243700
Immunodeficiency 23
Hemolytic anemia, Abscess, Increased circulating IgE level, Rheumatoid factor positive, Neutropen... OMIM:615816
Simple Cryoglobulinemia
Abnormality of the kidney, Rheumatoid factor positive, Monoclonal immunoglobulin M proteinemia, I... ORPHA:91139
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level... ORPHA:2902
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Complete or near-complete absence of s... ORPHA:70593
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... ORPHA:37042
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Abnormality of ... OMIM:611926
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Uveitis, Autoimmune hemolytic anemia, Keratoc... OMIM:617388
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Nep... ORPHA:100024
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... OMIM:619752
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Oligoarthritis, Decrease... OMIM:619510
Igg4-Related Kidney Disease
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Enlarg... ORPHA:449395
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 61
Decreased circulating total IgM, Colon cancer, Decreased circulating IgG2 level, Decreased circul... OMIM:300310
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Hodgkin ... OMIM:236000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... OMIM:152700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... OMIM:602450
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hepatosplenomegaly, Partial absence of specific antibody response t... OMIM:618261
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Cytoplasmic antineutrophil antibody positivity, Malar rash, Leuk... OMIM:615934
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... OMIM:301081
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Ke... OMIM:618523
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, C3 nephritic factor positivity, Stage 5 ... ORPHA:54370
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Increased circulating IgE level, Eosinophilia, Recurrent pneumo... OMIM:147060
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Decreased circulating... OMIM:617780
Lysinuric Protein Intolerance
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Hyperalan... ORPHA:470
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Decreased ... OMIM:618282
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Proteinuria, Lymphopenia, Hyperlipidemia, Thrombocytopenia, Focal segmental glomeru... ORPHA:1830
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Recurrent otitis media, Recurre... OMIM:615577
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Chronic oral candidiasis, Decreased p... ORPHA:276
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Diffuse Alveolar Hemorrhage
Proteinuria, Autoimmunity, Leukocytosis, Anemia, Rheumatoid factor positive, Antineutrophil antib... ORPHA:90060
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... OMIM:301078
Preeclampsia
Abnormality of the hepatic vasculature, Proteinuria, Abnormality of the kidney, Autoimmunity, Acu... ORPHA:275555
Complement Component C1R/C1S Deficiency
Autoimmunity, Arthritis, Discoid lupus rash, Complement deficiency, Nephritis OMIM:216950
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Abnormal circulating lipid concentration, Nephrotic syndrome, Decreased circulating ... OMIM:608709
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Arthralgia/arthritis, Systemic lupus erythema... ORPHA:411593
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Hemophagocytosis, Aplastic anemia, Neutropenia, Fulminant hepatitis, Reduced na... OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Aplastic anemia, Colitis, Hepatomegaly, Sp... OMIM:300635
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti... OMIM:614699
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Autoimmunity, Decreased specific pneumococcal antibody level, Recurrent urinar... ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, H... OMIM:613101
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... ORPHA:444463
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... ORPHA:35078
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Autoimmunity, Increased... ORPHA:449432
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Increased circulatin... OMIM:308230
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... ORPHA:99931
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Neutropenia, Absent circulating B cells, Recurrent otitis media, A... OMIM:613501
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria,... ORPHA:2134
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Decreased circulating beta-2-microglobulin level, Decreased proportion of CD4-posit... ORPHA:572
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia ORPHA:318
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Autoimmunity, Hashimoto thyroiditis, Skin rash, Recurrent aphthous stomatitis, Decrease... ORPHA:275
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614878
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... OMIM:619858
Agammaglobulinemia, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to Haemophilus... OMIM:300755
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestasis, Granuloma, Anti-liver cytosolic antigen type 1 antibody positivity, Increased circul... ORPHA:562639
Brucellosis
Myocarditis, Leukocytosis, Rheumatoid factor positive, Granuloma, Hepatomegaly, Intrarenal absces... ORPHA:1304
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Antineutrophil antibody positivity, Lymphopenia, Increased circula... ORPHA:2688
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... ORPHA:93552
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Pauci-Immune Glomerulonephritis
Microscopic hematuria, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glomeruloneph... ORPHA:93126
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmunity, Autoimmun... OMIM:615952
Boutonneuse Fever
Maculopapular exanthema, Leukopenia, Cervical lymphadenopathy, Skin rash, Renal insufficiency, In... ORPHA:83313
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Lymphoma, Dysgammaglobulinemia... ORPHA:100025
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Rheumatoid factor positive, Elevate... ORPHA:48435
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... OMIM:615592
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Uveitis, Hep... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Schnitzler Syndrome
Leukocytosis, Skin rash, Anemia, Hepatomegaly, Arthritis, Increased circulating IgM level, Lympha... ORPHA:37748
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, In... ORPHA:400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity, Elevated circulating C-reac... OMIM:616414
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma, Eosinophilia OMIM:270300
C3 Glomerulopathy 3
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... OMIM:614809
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule OMIM:616069
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... ORPHA:49041
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Neoplasm, Autoimmunity, Skin rash, A... ORPHA:47
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level, ... OMIM:193670
Insulin-Resistance Syndrome Type B
Autoimmunity, Osteoarthritis, Antinuclear antibody positivity, Proteinuria, Abnormal circulating ... ORPHA:2298
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Thrombocythemia 2
Thrombocytosis OMIM:601977
Secondary Intestinal Lymphangiectasia
Lymphoma, Decreased circulating total IgM, Chylous ascites, Autoimmunity, Decreased prealbumin le... ORPHA:90363
Immunodeficiency 43
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... OMIM:241600
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Recurrent urinary tract infection... OMIM:613179
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Nephrotic syndrome, Decreased circulating complement C3 concentration, Membranoproli... OMIM:613913
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... OMIM:615214
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Hepatomegaly, Decreased circulating IgA level, Methylmalonic aci... OMIM:275350
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, B lymphocytopenia, Conjunctivi... OMIM:601457
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Chronic rhinitis, Recurrent skin infections, ... OMIM:256500
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Aspergillosis
Abnormality of the kidney, Increased circulating IgE level, Eosinophilia, Hepatitis, Sinusitis, I... ORPHA:1163
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... OMIM:300835
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Prolidase Deficiency
Increased circulating antibody level, Hyperimidodipeptiduria, Anemia, Hepatomegaly, Prolonged neo... OMIM:170100
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Renal i... OMIM:619644
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome, Macronod... OMIM:215250
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Ascites, Decreased circulating... OMIM:301045
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Igg4-Related Ophthalmic Disease
Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Orchitis, Colon cancer,... ORPHA:449563
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Myelodysplasia, Systemic lupus erythe... OMIM:616871
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased serum creatinine, Hypohomocysteinemia, Recurrent skin ... OMIM:617744
Papa Syndrome
Proteinuria, Increased inflammatory response, Increased circulating antibody level, Pustule, Arth... ORPHA:69126
Hypocomplementemic Urticarial Vasculitis
Proteinuria, Glomerulopathy, Autoimmunity, Skin rash, Renal insufficiency, Uveitis, Hepatomegaly,... ORPHA:36412
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Refractory anemia, Leukopenia OMIM:231095
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Anti-Glomerular Basement Membrane Disease
Proteinuria, Glomerulopathy, Autoimmunity, Anemia, Renal insufficiency, Arthritis, Hematuria ORPHA:375
Netherton Syndrome
Hydronephrosis, Skin rash, Ectopic kidney, Increased circulating IgE level, Eczema, Aminoaciduria... ORPHA:634
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Drug-Induced Lupus Erythematosus
Pericarditis, Malar rash, Lupus anticoagulant, Anemia, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Myelodysplasia, Multiple lineage myelody... ORPHA:98827
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Reticular Dysgenesis
Chronic otitis media, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Skin rash, Abnormalit... ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... OMIM:618986
Lead Poisoning
Increased LDL cholesterol concentration, Chronic kidney disease, Tubulointerstitial nephritis, Ab... ORPHA:330015
Thymic Tumor
Autoimmunity, Mediastinal lymphadenopathy, Neoplasm of the thymus, Neuroendocrine neoplasm, Peric... ORPHA:100100
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Immunodeficiency 47
Decreased circulating total IgM, Leukopenia, Normocytic anemia, Cholestasis, Hepatic bridging fib... OMIM:300972
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... OMIM:616098
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Sin... OMIM:226990
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Nephrotic Syndrome, Type 15
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... OMIM:617609
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... OMIM:161900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Decreased circulating total IgM, Decreased specific antibody ... ORPHA:221139
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Bloom Syndrome
Acute lymphoblastic leukemia, Neoplasm of the breast, Nephroblastoma, Acute myeloid leukemia, Rec... ORPHA:125
Nephrotic Syndrome, Type 16