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 1.20×10-14
decreased large unstained cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 3.32×10-05
decreased leukocyte cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 5.75×10-14
increased neutrophil cell number Ikzf3tm1(KOMP)Vlcg HOM Early adult 3.76×10-07
thrombocytopenia Ikzf3tm1(KOMP)Vlcg HOM Early adult 1.21×10-05

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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
cranium
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thalamus 0.0%
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
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 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forearm 0.43% (1 of 232)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lower leg 0.39% (1 of 255)
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)
upper arm 0.41% (1 of 245)
upper leg 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

168 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

6 Images

Eye Morphology

Images Ophthalmoscopy

4 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, Splenomegaly, B lymphocytopenia OMIM:619437

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Autoimmunity, Increased CD4:CD8 ratio, Nephrotic syndrome, Prot... OMIM:617006
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 8
Lymphopenia OMIM:615401
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia,... OMIM:615559
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, T lymphocytopenia, Lack of ... ORPHA:277
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Immunodeficiency 64
Decreased circulating IgG level, Autoimmune hemolytic anemia, Anti-thyroid peroxidase antibody po... OMIM:618534
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... OMIM:607594
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Whim Syndrome 2
Chronic neutropenia OMIM:619407
C3 Glomerulopathy
Decreased serum complement C4, Autoimmunity, Glomerular extracapillary hypercellularity, Nephroti... ORPHA:329918
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Hepatosplenomegaly, Increased proportion... OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Facial papilloma, Increased circulating IgG level, Increased circulating ... OMIM:619220
Immunodeficiency 25
Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgG level, Antimitoch... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Immunodeficiency 19
Lymphopenia OMIM:615617
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, ... OMIM:618394
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Rheumatoid factor positive, Increased circulating IgM... OMIM:209950
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmunity, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Rheumatoid factor positive, Decreased eosinophi... OMIM:619632
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Decreased s... OMIM:613652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Increased circulating IgG4 level, Hydronephrosis, Increased infl... ORPHA:449400
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenom... OMIM:614470
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Transient n... OMIM:619707
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:169079
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:169154
Thymoma
Autoimmunity, Neoplasm of the gastrointestinal tract, Prostate neoplasm, Rheumatoid arthritis, Ne... ORPHA:99867
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Autoimmune hem... OMIM:616100
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Inflammation of the large intestine, Decreased ... OMIM:615767
Autoimmune Hepatitis
Viral hepatitis, Ascites, Ulcerative colitis, Sclerosing cholangitis, Jaundice, Inflammation of t... ORPHA:2137
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Renal... OMIM:613779
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Diffuse mesangial sclerosis, Recurrent pneumonia, Pneumonia, Sin... OMIM:102700
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Decreased serum iron, Lymphadenopathy, Chronic oral candidiasis, Increased cir... OMIM:212050
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Squamous cell carcinoma, Verrucae, Recurrent sinusitis, Atopic derm... ORPHA:217390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Lymphoma, Decreased CD69 upregulation upon T... OMIM:300853
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Arthritis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulo... OMIM:304790
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Autoimmunity, Absent natural killer cells, Histioc... ORPHA:2442
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, Lymph... OMIM:240500
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Decreased proportion of CD8-positive T cells, Incr... OMIM:617241
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder, Erythroid hypoplasia OMIM:242880
Idiopathic Non-Lupus Full-House Nephropathy
Decreased serum complement C4, Nephrotic syndrome, Elevated circulating creatinine concentration,... ORPHA:567544
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Lymphoma,... ORPHA:443811
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Lymphoma, Chronic... OMIM:614700
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Igg4-Related Kidney Disease
Decreased serum complement C4, Elevated circulating creatinine concentration, Rheumatoid factor p... ORPHA:449395
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria, Decreased se... ORPHA:79087
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Complement Component 4A Deficiency
Decreased serum complement C4, Glomerulonephritis, Systemic lupus erythematosus, Reduced hemolyti... OMIM:614380
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Panhypogammaglobulinemia, Eczematoid dermatitis OMIM:269840
Simple Cryoglobulinemia
Viral hepatitis, Rheumatoid factor positive, Proteinuria, Mesangial hypercellularity, Microscopic... ORPHA:91139
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Decreased circulating IgG level, Auto... OMIM:613011
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Increased circulati... OMIM:243700
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentrat... ORPHA:2902
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:615816
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Increased circulating IgG level, Hypereosinophilia, Increased circul... OMIM:617388
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Insulin receptor antibody positivity, Membranous nephr... ORPHA:37042
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, B-cell lymphoma, Bronchiectasis... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Bence Jones Proteinuria... ORPHA:100024
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Antiphospholipid antibody positivity, Systemic lupus erythematosus, ... OMIM:152700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Increased circulating IgG level, Rheumatoid factor positive, Leukopenia, Paratracheal l... OMIM:615934
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphoproliferative disorder, Hodgkin l... OMIM:618261
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma, Impaired lymphocyte transformation w... OMIM:153600
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Anemia of ... OMIM:617780
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity ORPHA:60026
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Eczemato... OMIM:147060
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Keratitis, Increased circulating Ig... OMIM:618523
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:615577
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Lymphoma, Abnormal... ORPHA:276
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Proteinuria, Anemia, Microscopic hematuria, Pancreatitis, Stage 5 chronic kidney di... ORPHA:1830
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Complement deficiency, Arthritis OMIM:216950
Diffuse Alveolar Hemorrhage
Decreased serum complement C4, Autoimmunity, Leukocytosis, Elevated circulating creatinine concen... ORPHA:90060
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Thr... ORPHA:470
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Immunodeficiency 11
Pneumonia, Decreased circulating antibody level OMIM:615206
Preeclampsia
Autoimmunity, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Ab... ORPHA:275555
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level OMIM:617744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Autoimmunity, Cholangit... ORPHA:183675
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... ORPHA:444463
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating... ORPHA:411593
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, T lymphocy... ORPHA:35078
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive hel... ORPHA:572
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Igg4-Related Submandibular Gland Disease
Autoimmunity, Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating I... ORPHA:449432
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent otitis media, Agammaglobulinemia OMIM:613501
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Autoimmunity, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Abnormality of complement system, Thrombocytopenia, ... ORPHA:2134
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Autoimmune antibody positivity, Glo... ORPHA:99931
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Abnormal circulating lipid concentration, Membranopro... OMIM:608709
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Hypoproteinemia, Decreased prop... ORPHA:90362
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... OMIM:178610
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Antimitochondrial antibody positivity, Cholestasis, Interface hepatitis, Hyperbilirubinemia, Ulce... ORPHA:562639
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Pediatric Systemic Lupus Erythematosus
Decreased serum complement C4, Proteinuria, Malar rash, Dark urine, Ascites, Thrombocytopenia, Ly... ORPHA:93552
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Hepatosplenomegaly, Autoimmune hemolytic anemia,... OMIM:615952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, Otitis... OMIM:601457
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Uveitis, Hepatosplenomegaly, Hemophagocytosis, Lymphoma, Splen... OMIM:615122
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Sinusitis, Pneumonia, Increased ... OMIM:600903
Postinfectious Vasculitis
Viral hepatitis, Rheumatoid factor positive, Gastrointestinal inflammation, Proteinuria, Inflamma... ORPHA:48435
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Lymphoma, Splenomegaly, Hepatomegaly, Anemia, Lymp... ORPHA:37748
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Lymphoma, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy... ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Crescentic glo... OMIM:616414
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, J... ORPHA:400
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Autoimmunity, Agammaglobulinemia, Arthritis, Hypocalcemia, Thromb... ORPHA:47
Insulin-Resistance Syndrome Type B
Glycosuria, Autoimmunity, Biliary cirrhosis, Proteinuria, Lymphoma, Hodgkin lymphoma, Thrombocyto... ORPHA:2298
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Unilateral renal hypoplasia, Rheumatoid factor pos... ORPHA:49041
Thrombocythemia 2
Thrombocytosis OMIM:601977
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Autoimmunity, Lymphoma, Decreased cir... ORPHA:90363
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Lymphoma, Abnormality of B cell physiology, Autoimmune hemolytic anemia, Au... OMIM:613179
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... OMIM:275350
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Decreased s... OMIM:613913
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Verrucae, Bronchiectasis, ... OMIM:193670
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Increased circulating IgE level OMIM:618985
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Decreased circulating IgA level, Mucopol... OMIM:215250
Prolidase Deficiency
Recurrent pneumonia, Splenomegaly, Systemic lupus erythematosus, Hepatomegaly, Increased circulat... OMIM:170100
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Atopic derm... OMIM:615846
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Erythroderma, Allergic rhinitis, Increased ci... OMIM:256500
Aspergillosis
Sinusitis, Eosinophilia, Pneumonia, Infectious encephalitis, Abnormality of the kidney, Bronchiec... ORPHA:1163
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma, Increased circulating beta-2... ORPHA:209004
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Non-Hodgkin lymphoma, Cholangitis, Orchitis, Increased circulating IgG4 ... ORPHA:449563
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Hepatomegaly, Decreased circulating antibody level, Jaundice, Decreas... OMIM:301045
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 61
Recurrent otitis media, Colon cancer, Agammaglobulinemia, Recurrent sinusitis, Arthritis OMIM:300310
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Eosinophilia, Pneumonia, Decreased proporti... ORPHA:169160
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Lymphoma, Acute myeloid leukemia, Systemic ... OMIM:616871
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi... ORPHA:90003
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnormality of the eye, Ly... ORPHA:36412
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Increased circulat... ORPHA:69126
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia, Complement deficiency, Systemic lupus erythematosus OMIM:613791
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Bronchiectasis, Inflammation of the larg... OMIM:618108
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Myelodysplasia, ... ORPHA:98827
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Decreased circulating antibody level, Eczema, Aminoaciduria, Eryt... ORPHA:634
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Drug-Induced Lupus Erythematosus
Decreased serum complement C4, Hematuria, Autoimmune antibody positivity, Increased blood urea ni... ORPHA:231111
Thymic Tumor
Autoimmunity, Neuroendocrine neoplasm, Dysgammaglobulinemia, Neoplasm of the thymus, Pericarditis... ORPHA:100100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Parti... OMIM:618986
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus OMIM:613783
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Chronic oti... ORPHA:33355
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, ... OMIM:608184
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Macrophage Activation Syndrome
Autoimmunity, Abnormality of tumor necrosis factor secretion, Anemia, Hepatitis, Increased serum ... ORPHA:158061
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Decreased circulating total IgM, Chronic oral candidiasis, Decreased c... ORPHA:221139
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Lymphoma, Neoplasm of the breast, Recurrent tonsillitis... ORPHA:125
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukocytosis, Cholangitis, Th... OMIM:619652
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune antibod... ORPHA:227990
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Increased circulating antibody level, Rheumatoid a... ORPHA:48104
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Squamous cell carcinoma, Leukem... OMIM:210900
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Hyperbilirubinemia, T... ORPHA:158057
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Multiple Myeloma
Increased circulating IgG level, Elevated circulating creatinine concentration, Hypercalcemia, Ac... ORPHA:29073
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Q Fever
Rheumatoid factor positive, Antimitochondrial antibody positivity, Maculopapular exanthema, Anemi... ORPHA:781
Nephrotic Syndrome, Type 15