Gene Summary

Name:
caspase recruitment domain family, member 11
Synonyms:
2410011D02Rik,  0610008L17Rik,  CARMA1,  BIMP3

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
increased CD4-positive, alpha beta T cell number Card11em1(IMPC)Ccpcz HOM Early adult 3.23×10-08
small spleen Card11em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Card11em1(IMPC)Ccpcz HOM   Early adult 1.86×10-06
hydrometra Card11em1(IMPC)Ccpcz HOM Early adult 0.00
increased lymphocyte cell number Card11em1(IMPC)Ccpcz HOM Early adult 2.51×10-06
small testis Card11em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Card11em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating alkaline phosphatase level Card11em1(IMPC)Ccpcz HOM Early adult 3.82×10-05
abnormal spleen morphology Card11em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Card11em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Card11em1(IMPC)Ccpcz HOM Early adult 2.62×10-14
increased CD8-positive, naive alpha-beta T cell number Card11em1(IMPC)Ccpcz HOM Early adult 2.44×10-13
decreased spleen weight Card11em1(IMPC)Ccpcz HOM   Early adult 1.64×10-06
enlarged thymus Card11em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Card11em1(IMPC)Ccpcz HOM Early adult 0.00
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Card11em1(IMPC)Ccpcz HOM Early adult 6.71×10-37
decreased effector memory T-helper cell number Card11em1(IMPC)Ccpcz HOM Early adult 5.95×10-16
increased leukocyte cell number Card11em1(IMPC)Ccpcz HOM Early adult 6.63×10-10
increased T cell number Card11em1(IMPC)Ccpcz HOM Early adult 1.53×10-13
increased T-helper cell number Card11em1(IMPC)Ccpcz HOM Early adult 1.86×10-12
increased CD8-positive, alpha-beta T cell number Card11em1(IMPC)Ccpcz HOM Early adult 2.34×10-17
decreased effector memory CD8-positive, alpha-beta T cell number Card11em1(IMPC)Ccpcz HOM Early adult 1.12×10-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Card11 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 Card11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638

The table below shows human diseases predicted to be associated to Card11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Lack of T cell functio... ORPHA:277
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Deep dermatophytosis, Lymphadenopathy, Chronic oral candidiasis, Increased cir... OMIM:212050
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Leukocytos... OMIM:619281
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Immunodeficiency 20
Recurrent sinusitis, Recurrent otitis media, Reduced natural killer cell activity, Reduced natura... OMIM:615707
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:619752
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Recurrent otitis media, Increased circulating IgG ... OMIM:243700
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Decreased proportion of C... ORPHA:276
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... ORPHA:70593
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Inflammation of the large intestine, Decreased ... OMIM:615767
Immunodeficiency 40
Lymphopenia OMIM:616433
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Decreased circulating antibody level... OMIM:613101
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Autoimmune thr... OMIM:616100
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Sézary Syndrome
Abnormal lymphocyte morphology, Pruritus, Abnormal immunoglobulin level, Splenomegaly, Hepatomega... ORPHA:3162
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... OMIM:618394
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Delayed femoral head ossification, Multicentric femoral... ORPHA:168621
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Decreased circulating total IgM, Decreased proport... ORPHA:331206
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Decreased proportion of memory B cells, He... OMIM:615559
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, B lym... ORPHA:217390
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 8
Lymphopenia OMIM:615401
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Absent natural killer cells, Abnormality of... OMIM:600802
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, A... OMIM:619652
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Enterocolitis, Thromboc... OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Increased circulating IgM level, Decreased circulating I... OMIM:242860
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, Impaired lympho... OMIM:617006
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Increased circulating antibody level, Neutropenia, Anemia, Thrombocytop... OMIM:615285
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level OMIM:246550
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Eczemato... OMIM:147060
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Keratitis, Increased circulating Ig... OMIM:618523
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Erythroder... OMIM:603554
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Erythroderma, Allergic rhinitis, Increased ci... OMIM:256500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic arthritis, Decrea... OMIM:617780
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Increased circulating IgE level OMIM:618985
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Eosinophilia, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Chronic... OMIM:616740
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Eczema, Anemia, Th... OMIM:618116
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Chronic oti... ORPHA:33355
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Myeloma, Multiple
Paraproteinemia OMIM:254500
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Schnitzler Syndrome
Pruritus, Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymp... ORPHA:37748
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Decreased circulating antibody level OMIM:605309
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Decreased eosinophil count, Increased circulati... OMIM:619632
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy, Skin rash OMIM:618048
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity OMIM:607624
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Lack ... ORPHA:572
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Chronic lymphatic leukemia, L... OMIM:616005
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating total IgG, Decre... ORPHA:221139
Chilblain Lupus
Chronic myelomonocytic leukemia, Pruritis on hand, Increased circulating antibody level, Malar ra... ORPHA:90280
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Netherton Syndrome
Decreased circulating antibody level, Eczema, Erythroderma, Increased circulating IgE level, Skin... ORPHA:634
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Pneumonia, Splenomegaly, He... ORPHA:39041
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circula... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level, Pruritus ORPHA:90368
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of CD3-pos... ORPHA:90362
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level ORPHA:89843
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutropenia, Monocyt... ORPHA:2688
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Lymphadenopathy, Inflammatory a... ORPHA:499
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts OMIM:617425
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Absent tonsils, Panhypogammaglobulinemia, Otitis media, Aplasia of the thymus, Lymph n... OMIM:602450
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level OMIM:270300
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Abnormal circulating interleukin concentration, Hepatosplenomegaly, Hemophagocytosi... ORPHA:158057
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Increased circulating antibody ... ORPHA:69126
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media OMIM:608971
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, H... OMIM:615122
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Incre... OMIM:301000
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Recurrent otitis media, Hepatosplenomegaly, Reduced na... OMIM:608233
Chronic Actinic Dermatitis
Pruritus, Eczema, Erythroderma, Allergic rhinitis, Late onset atopic dermatitis ORPHA:330064
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Atopic dermatitis, Thrombocytop... OMIM:615846
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased inflammatory response, Increased c... ORPHA:449400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial ... ORPHA:139402
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity OMIM:615190
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Pruritus, Myeloproliferative disorder, Hepatomegaly, Erythroderma, Abno... ORPHA:79456
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Inflammato... ORPHA:3392
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pruritus, Pustule ORPHA:2897
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Idiopathic Achalasia
Decreased prealbumin level, Cough, Recurrent aspiration pneumonia, Wheezing, Bronchitis ORPHA:930
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... OMIM:613496
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Aplasia of the thymus, Eczematoid dermat... OMIM:242700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Cutaneous abscess, Colitis, Molluscum contagios... OMIM:618131
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Reduced natural kille... OMIM:619381
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Molluscum contagi... OMIM:615816
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Leukemia, Decreased circulating... OMIM:210900
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Decreased circulating IgG level OMIM:600351
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switch recombination OMIM:608184
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Eczema, Increased circulating IgE... OMIM:313900
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:612301
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia OMIM:208910
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid... ORPHA:183675
Immunodeficiency 66
Recurrent skin infections, Pustule, Defective T cell proliferation OMIM:618847
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Agammaglobulinemia, Cholangitis, Infectious encephalitis, Colitis, Neutropenia, ... OMIM:209920
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Agammaglobulinemia, Arthritis, Bronchiectasis, Neutropenia,... ORPHA:33110
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Pruritus, Maculopapular exanthema, Splenomegaly, Hep... ORPHA:98848
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Recurrent mycobacterial infections,... ORPHA:911
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Pruritus, Eczema, Osteomyelitis, Chronic otitis media, Increased circulating IgE le... ORPHA:2314
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Interstitial pneumo... OMIM:615952
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Complement Component 5 Deficiency
Decreased serum complement C5, Generalized seborrheic dermatitis, Reduced hemolytic complement ac... OMIM:609536
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Colitis, Inflammation of the large intestine, Neutropenia, Eczem... OMIM:608809
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Ichthyosis With Confetti
Erythroderma OMIM:609165
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Leukopenia, Normocytic ... OMIM:300972
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Acne inversa, Decreased circulating antibody level, Arteritis, Recurre... OMIM:233600
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Uveitis, Pneumonia, Acute myelo... ORPHA:125
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased circulati... OMIM:617591
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Decreased circulat... ORPHA:353298
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis, Abnor... ORPHA:169105
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abn... OMIM:613179
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Increased circu... ORPHA:555905
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Aspergillosis
Eosinophilia, Sinusitis, Pneumonia, Infectious encephalitis, Bronchiectasis, Neutropenia, Osteomy... ORPHA:1163
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Agammaglobulinemia, Arthritis, Thrombocytopenia, Neutropenia, Ane... ORPHA:47
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Hyponatremia, Cryptorchidism, Hyperkalemia... OMIM:617053
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus ORPHA:79394
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis, Pruritus OMIM:608649
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Adrena... OMIM:619151
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Increased circulating antibody level, Rheumatoid a... ORPHA:48104
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly OMIM:613385
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemi... OMIM:243150
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Abn... ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Abno... ORPHA:381
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Hyper-Igd Syndrome
Increased circulating IgD level, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circu... OMIM:260920
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Myositis, Increased circulating IgG level, Thrombocytos... OMIM:615934
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Common Variable Immunodeficiency
Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level, Bronc... ORPHA:1572
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Trichothiodystrophy 1, Photosensitive
Erythroderma, Keratoconjunctivitis sicca, Decreased circulating IgG level OMIM:601675
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hypereosinop... ORPHA:508533
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Igg4-Related Kidney Disease
Decreased serum complement C4, Prostatitis, Arteritis, Membranous nephropathy, Abnormality of mes... ORPHA:449395
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neut... ORPHA:36238
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Maculopapular exanthema, Thrombocytopenia, Increased circulating ... ORPHA:319218
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Eczema, Refractory ... OMIM:616871
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Erythroderma, Conjunctivitis OMIM:242150
Caffey Disease
Increased circulating antibody level ORPHA:1310
Popov-Chang syndrome
Recurrent otitis media, Lymphopenia, Decreased circulating antibody level OMIM:618428
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Inflammatory abnormality of the skin, Pa... ORPHA:3260
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Lamellar Ichthyosis
Erythroderma, Pruritus, Chronic otitis media ORPHA:313
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Cirrhosis, Thrombocytopenia OMIM:613987
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Elevated... ORPHA:90117
Thymoma
Abnormal lymphocyte proliferation, Myositis, Leukemia, Abnormal lymphocyte physiology, Glomerulon... ORPHA:99867
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia ORPHA:935
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Pemphigus Foliaceus
Pruritus, Erythroderma, Psoriasiform dermatitis, Pustule, Crusting erythematous dermatitis ORPHA:79481
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenitis, Crohn's disease, Sple... OMIM:618935
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Prolidase Deficiency
Recurrent pneumonia, Splenomegaly, Hepatomegaly, Eczema, Anemia, Increased circulating antibody l... OMIM:170100
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Pruritus, Pustule ORPHA:48377
Whim Syndrome
Sinusitis, Recurrent pneumonia, Pneumonia, Lymphadenitis, Parotitis, Decreased circulating antibo... ORPHA:51636
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Thymic Aplasia
Sinusitis, T lymphocytopenia, Pneumonia, Chronic oral candidiasis, Coombs-positive hemolytic anem... ORPHA:83471
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Pruritus, Superficial dermal perivascular inflammatory infiltrat... ORPHA:83617
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Anemia, Acute... ORPHA:514
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Thymic Tumor
Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus, Pericarditis ORPHA:100100
Harlequin Ichthyosis
Erythroderma ORPHA:457
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Zika Virus Disease
Pruritus, Increased circulating IgM level, Arthritis, Infectious encephalitis, Maculopapular exan... ORPHA:448237
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG level, Ulcerative c... ORPHA:2137
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Aplastic anemia, Acute lymphobl... OMIM:223370
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846