Gene Summary

Name:
signal transducer and activator of transcription 6
Synonyms:
N/A

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 mean corpuscular hemoglobin concentration em1(IMPC)H HET Early adult 2.07×10-08
increased hemoglobin content em1(IMPC)H HET Early adult 2.85×10-05
increased mean corpuscular hemoglobin em1(IMPC)H HET   Early adult 1.26×10-05

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Stat6 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 Stat6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Urinary retention, Soft tissue n... ORPHA:2126

The table below shows human diseases predicted to be associated to Stat6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Recurrent fever, Fever OMIM:260570
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Recu... OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, B lymphocytopenia, Recurrent opportuni... ORPHA:277
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615206
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral he... OMIM:619220
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Skin ulcer, Onychomycosis, Increased circulating I... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:615767
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Rheumatoid factor positive, Incre... OMIM:619632
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased... OMIM:618495
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections OMIM:617744
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Erythema, Chronic mucocutaneous ... OMIM:147060
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Recurrent sinopulmonary infections, Decreased circulating antibody level, R... OMIM:616576
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Myeloma, Multiple
Paraproteinemia OMIM:254500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... OMIM:618394
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... OMIM:616100
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly OMIM:269840
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Recurrent infec... OMIM:614470
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Chilblain Lupus
Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Rheumatoid factor positive, Increa... ORPHA:90280
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut... OMIM:603909
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... OMIM:618261
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Peeling Skin Syndrome 1
Scaling skin, Increased circulating IgE level, Erythema OMIM:270300
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... OMIM:606367
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis media, Eosino... OMIM:618523
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, C... ORPHA:449400
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... OMIM:615577
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Reticular Dysgenesis
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Recurrent respiratory infection... ORPHA:33355
Pgm3-Cdg
Sepsis, Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurren... ORPHA:443811
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... OMIM:614878
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Eosinophilia, Abscess, Erythema, Increased circul... OMIM:615816
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive ... OMIM:615559
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anemia, Rheumatoid factor positive, Increased circulating IgG level... OMIM:209950
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79503
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eosinophilia, Neutropenia, Coombs-positive ... OMIM:304790
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Petechiae, ... OMIM:301000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Pancytopenia, Reduced natural killer cell activity, Decreas... OMIM:308240
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Hypotrichosis Simplex Of The Scalp
Scaling skin, Increased circulating IgE level ORPHA:90368
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Recurrent in... OMIM:256500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Perioral erythema, Perianal erythema OMIM:614328
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... OMIM:614700
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia,... OMIM:266265
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... OMIM:617388
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Neutropenia, Lack of T cell function, Recurrent herpes, Recurrent protozoan infecti... ORPHA:572
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections OMIM:614069
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Erythema, Recurrent infections, Incr... OMIM:615934
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Erythema, Antinuclear antibody positivity ORPHA:90159
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity, Leukocytosis, Hypereosinophilia ORPHA:2902
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Recurrent infections, Increased circulating IgE level, Recurrent respiratory infect... ORPHA:2314
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Re... OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections OMIM:618048
Pyoderma Gangrenosum
Increased circulating antibody level, Rheumatoid arthritis, Myeloid leukemia, Skin ulcer, Skin ve... ORPHA:48104
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Decreased serum complement fact... OMIM:613652
Selective Igm Deficiency
Sepsis, Autoimmunity, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presenc... ORPHA:331235
Primary Erythromelalgia
Hypothermia ORPHA:90026
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma ORPHA:498359
Netherton Syndrome
Decreased circulating antibody level, Recurrent infections, Increased circulating IgE level, Dry ... ORPHA:634
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Chronic lymphatic leukemia, Decreased circulating a... OMIM:616005
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... OMIM:618204
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Mal De Meleda
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... ORPHA:87503
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,... OMIM:178500
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly OMIM:605309
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Recurrent... ORPHA:183675
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma OMIM:615024
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, ... OMIM:613011
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma ORPHA:2897
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Erythema, Increased circulating antibody level, Rheum... ORPHA:48377
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Pancytopenia, Recurrent... OMIM:300635
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypoce... ORPHA:811
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Prolidase Deficiency
Petechiae, Systemic lupus erythematosus, Recurrent infections, Anemia, Splenomegaly, Increased ci... OMIM:170100
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Recurrent infections, Transient hypogammaglobulinemia of infancy OMIM:251240
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Recurrent skin inf... OMIM:615508
Ataxia-Telangiectasia
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... OMIM:208900
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... OMIM:209920
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Aspergillosis
Infectious encephalitis, Neutropenia, Invasive pulmonary aspergillosis, Increased circulating IgE... ORPHA:1163
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
X-Linked Agammaglobulinemia
Sepsis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Ane... ORPHA:47
Lymphoproliferative Syndrome 2
Sepsis, Decreased circulating antibody level, Decreased lymphocyte proliferation in response to m... OMIM:615122
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Neoplasm, Fever, Exertional dyspn... ORPHA:723
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Sepsis, Autoimmunity, Neutropenia, Neutropenia in pr... ORPHA:37042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Bloom Syndrome
Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent upper respi... OMIM:210900
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Highly arched eyebrow, Eczema, Hirsutism, Transient hypogammaglobulin... ORPHA:3132
Isolated Agammaglobulinemia
Sepsis, Autoimmunity, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Keratolytic Winter Erythema
Pustule ORPHA:50943
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgG level, Complement defic... ORPHA:449432
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Caffey Disease
Increased circulating antibody level ORPHA:1310
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... OMIM:612301
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Recurrent infections... ORPHA:329918
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autoimmune Hepatitis
Antineutrophil antibody positivity, Liver kidney microsome type 1 antibody positivity, Increased ... ORPHA:2137
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Immunodeficiency 47
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... OMIM:300972
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Fever, Lymphoma, Hypocalcemia ORPHA:100025
Chilblain Lupus 1
Antinuclear antibody positivity, Skin ulcer OMIM:610448
Thymoma
Prostate neoplasm, Abnormal lymphocyte proliferation, Neoplasm of the lung, Neoplasia of the pleu... ORPHA:99867
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis OMIM:603165
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Antimitochondrial antibody positivity, Liver kidney microsome type 1 antibody positivity, Increas... ORPHA:562639
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Recurrent otitis media, Splenomegaly, Autoimmune thro... ORPHA:444463
Leukocyte Adhesion Deficiency
Sinusitis, Impaired platelet aggregation, Conjunctivitis, Leukocytosis, Polycythemia, Nail dystro... ORPHA:2968
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Fever, Diabetes mellitus, Neoplasm of the liver ORPHA:90003
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Recurrent herpes, Decr... ORPHA:125
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Skin ulcer ORPHA:69126
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Acquired Ichthyosis
Pruritus, Recurrent skin infections, Palmoplantar keratoderma, Hyperkeratosis ORPHA:454
Schnitzler Syndrome
Anemia, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent viral infections, Anemia, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Otitis media, Pneumonia OMIM:608971
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent otitis media, Recurrent infections, ... OMIM:615207
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Crusting erythematous der... ORPHA:79481
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Epidermolytic Hyperkeratosis
Erythroderma, Palmoplantar hyperkeratosis OMIM:113800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Chronic oral candid... OMIM:150550
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Erythroderma, Parakeratosis OMIM:604777
Necrobiosis Lipoidica
Granuloma, Erythema, Abnormality of neutrophil physiology, Skin ulcer ORPHA:542592
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Hypothermia, Lacticaciduria, Methylmalo... OMIM:245400
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Autoimmunity, Splenomegaly, Pallor, Abnormal leukocyte morphology ORPHA:228312
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Thymic Aplasia
Sepsis, Autoimmunity, Recurrent infections, Recurrent candida infections, Oligoclonal T cell expa... ORPHA:83471
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia, Recurrent respiratory... OMIM:613385
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Hypothermia, Increased radioactiv... ORPHA:95716
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, R... ORPHA:90045
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod... OMIM:615952
Ulerythema Ophryogenesis
Contact dermatitis, Follicular hyperkeratosis, Acne, Hyperkeratotic papule ORPHA:3406
Elastoderma
Eczema, Erysipelas ORPHA:228240
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia... ORPHA:2298
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Dracunculiasis
Pruritus, Arthritis, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... ORPHA:64745
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Cystic Fibrosis
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:586
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, H... ORPHA:95717
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia OMIM:618806
Catastrophic Antiphospholipid Syndrome
Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level, Thrombocytop... ORPHA:464343
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia OMIM:602450
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia OMIM:608184
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Paraproteinemia, Mildly elevated creatine kinas... ORPHA:171442
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... ORPHA:330015
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Neutropenia, Systemic lupus erythematosus, Ane... ORPHA:158061
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Recurrent infections OMIM:615387
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent infections, Splenomegaly OMIM:613327
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Icf Syndrome
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Immunodeficiency 17
Eczema, Recurrent otitis media OMIM:615607
Menkes Disease
Hypothermia OMIM:309400
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia ORPHA:100
Thymic Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Cough, Dysgammaglobulinemia, Dyspnea ORPHA:100100
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infections, Rec... ORPHA:420741
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... ORPHA:449395
Tularemia
Brain abscess, Leukocytosis, Anemia, Meningitis, Increased circulating antibody level, Thrombocyt... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level OMIM:212065
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Roifman Syndrome
Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly, Recurrent pneum... ORPHA:353298
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Increased circulating interleukin 6, Anemia, Erythema OMIM:608068
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hashimoto thyroiditis, Leukopenia, Skin ulcer, Decreased circulatin... OMIM:615688
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Q Fever
Infectious encephalitis, Thrombocytopenia, Cryoglobulinemia, Unusual infection, Anticardiolipin I... ORPHA:781
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Pellagra-Like Syndrome
Skin rash OMIM:260650
Good Syndrome
Decreased circulating antibody level, Anemia, Recurrent urinary tract infections, Thrombocytopeni... ORPHA:169105
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Enteroviral dermatomyositis syndrome, Pyoderma, Absent circulatin... OMIM:307200
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, P... ORPHA:3243
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG level, R... OMIM:223370
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Classic Mycosis Fungoides
Erythema, Abnormal lymphocyte morphology, Splenomegaly, Dry skin, Skin ulcer ORPHA:2584
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent bronchitis, Recurrent viral infections, Decreased circulating antibody level, A... ORPHA:293978
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Autosomal Agammaglobulinemia
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Neutropenia OMIM:608809
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir... ORPHA:79078
Meningococcal Meningitis
Neonatal respiratory distress, Hypothermia, Fever, Elevated circulating C-reactive protein concen... ORPHA:33475
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Permanent Congenital Hypothyroidism
Hypothermia ORPHA:226292
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Anti... ORPHA:64744
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Livedoid Vasculopathy
Ecchymosis, Autoimmunity, Leukocytosis, Macular purpura, Abnormality of complement system, Polycy... ORPHA:542643
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Hypothermia, Goiter, Decreased circulating T4 level, Elevated circulat... ORPHA:226313
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Punctate keratitis, Hyperkeratosis OMIM:602540
Immunodeficiency 59 And Hypoglycemia
Sepsis, Decreased proportion of class-switched memory B cells, Decreased circulating antibody lev... OMIM:233600
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia ORPHA:98827
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Sézary Syndrome
Neoplasm of the skin, Abnormal immunoglobulin level, Lymphoma, Cutaneous T-cell lymphoma ORPHA:3162
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Hypothermia, Sudden episodic apnea, Dicarboxylic aciduria, Elevated cr... ORPHA:159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypothermia, Pneumonia, Elevated circulating creatine kinase concentration, Tach... ORPHA:26793
Igg4-Related Ophthalmic Disease
Antinuclear antibody positivity, Increased circulating IgE level, Eosinophilia, Increased circula... ORPHA:449563
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrog... ORPHA:230
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... ORPHA:90673
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, M... ORPHA:297
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Splenomegaly, Thro... ORPHA:381
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Cryoglobulinemia, P... ORPHA:48435
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Increased circulating inter... OMIM:256040
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Immunodeficiency 55
Eczema, Recurrent skin infections OMIM:617827
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... OMIM:613179
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Recurrent infections OMIM:226300
Congenital Enterovirus Infection
Hypothermia, Fever, Hyperammonemia, Respiratory distress, Hypoalbuminemia, Pleural effusion ORPHA:292
Juvenile Arthritis
Skin rash OMIM:618795
Aapoaiv Amyloidosis
Chronic pulmonary obstruction, Hyperlipidemia, Elevated circulating creatinine concentration, Abn... ORPHA:439232
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Hypothermia, Abnormal circulating thyrog... ORPHA:90674
Rift Valley Fever
Infectious encephalitis, Anemia, Increased circulating IgG level, Severe viral infection, Increas... ORPHA:319251
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Hypothermia, Hypoalbuminemia OMIM:251880
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Goiter, Hypothermia, Thyroid hypoplasia, Decreased cir... ORPHA:226316
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Aplasia of the sweat glands, Anhidrosis, Hypoh... OMIM:612132
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... OMIM:618935
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Recurrent infections OMIM:300953
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Eczema OMIM:243700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:617425
Ring Chromosome 21 Syndrome
Decreased circulating antibody level, Diabetes insipidus ORPHA:1445
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia, Pallor, Skin ulcer ORPHA:848
Felty Syndrome
Sepsis, Autoimmunity, Neutropenia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, R... ORPHA:47612
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Sp... ORPHA:231154
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Ichthyosis Prematurity Syndrome
Pruritus, Follicular hyperkeratosis, Allergic rhinitis, Erythroderma OMIM:608649
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... ORPHA:1493
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis OMIM:612281
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Decreased serum complement C4, An... ORPHA:90060
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Hypothermia, Elevated circulating creatine kinase concentration, El... ORPHA:99826
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Psoriasis 14, Pustular
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Parakeratosis OMIM:614204
Brucellosis
Leukocytosis, Thrombocytosis, Infectious encephalitis, Lung abscess, Leukopenia, Anemia, Increase... ORPHA:1304
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Neoplasm, Chemodectoma, Elevated circula... OMIM:605373
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media OMIM:618428
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Blepharitis, Conjun... OMIM:308800
Common Variable Immunodeficiency
Recurrent bronchitis, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytop... ORPHA:1572
Alg12-Cdg
B lymphocytopenia, Sepsis, Recurrent ear infections, Partial absence of specific antibody respons... ORPHA:79324
Congenital Hypothyroidism
Sinusitis, Goiter, Hypothermia, Nephrolithiasis, Hypogonadism, Abnormality of the thyroid gland, ... ORPHA:442
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Premature adrenarche, Abnormality of the hypothalamus-pituitary axis, Central hyp... ORPHA:293987
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Cryoglobulinemic Vasculitis
Cryoglobulinemia, Petechiae, Circulating immune complexes, Splenomegaly, Purpura, Skin ulcer ORPHA:91138
Lassa Fever