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Gene: Il4 MGI:96556

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
interleukin 4
Synonyms:
Il-4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Il4 mutations

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

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

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

The table below shows human diseases predicted to be associated to Il4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lichen Amyloidosis
Pruritus ORPHA:49804
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... OMIM:618944
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... OMIM:613502
Immunodeficiency 18
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... OMIM:615615
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... OMIM:212050
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 24
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Rec... OMIM:613500
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... OMIM:613495
Immunodeficiency 61
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Decreased circulating IgG2... OMIM:300310
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Recurrent abscess formation, Decreased ... ORPHA:169160
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Atopic dermatitis, Severe cy... OMIM:617638
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... OMIM:202700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Decreased cir... OMIM:619281
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Decreased c... OMIM:618969
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Eczema, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections, Abnor... OMIM:308220
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Disseminated molluscum conta... OMIM:243700
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Complete or near-complete absence of s... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... OMIM:618534
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Recurrent infections, Agammaglobulinemia OMIM:616911
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, High palate, Eczematoid dermatitis, Skin rash, Increased circ... OMIM:147060
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to uncon... OMIM:615401
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, High palate, Atopic dermatitis, Sterile abscess, Increased circ... OMIM:618282
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infection of the gastrointestinal trac... OMIM:137100
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Decreased circulating IgA... OMIM:608106
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Macroglossia, Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Re... OMIM:618523
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... OMIM:618982
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Recurrent fungal infections, Reduced antigen-specif... ORPHA:331206
Agammaglobulinemia 5, Autosomal Dominant
High palate, Agammaglobulinemia OMIM:613506
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... OMIM:613860
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Abnormal circulating... OMIM:226990
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Colitis, Decreased circu... OMIM:618394
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... OMIM:614420
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Chronic oral candidiasis, Increased circulating IgM level, S... OMIM:308230
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Oligoarthritis, Villous ... OMIM:619510
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... OMIM:616098
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Mucoid diarrhea, Inflammation of the large... OMIM:615767
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Autoimmunity, Beta-cell dysfunction, Insulin resistance OMIM:612227
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... OMIM:617006
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Chronic otitis media, Atopic dermatitis, Recurrent viral infect... ORPHA:217390
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... OMIM:615592
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymph... ORPHA:911
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Autoimmunity, Nonketotic hypoglycemia, Reactive hypoglycemia, Systemic lupu... ORPHA:411593
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Recurrent urinary tract... OMIM:619802
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... OMIM:615214
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... OMIM:301081
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, High palate, Decreased circulating IgA level, Decreased circulat... OMIM:614069
Agammaglobulinemia 8A, Autosomal Dominant
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... OMIM:616941
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Sepsis, Rec... OMIM:256500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, High palate, Atopic dermatitis, Increased circulating IgE level,... OMIM:619752
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Skin rash, Increased CD4... OMIM:618048
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Abnormality of humoral immunity, Increased circulating IgE ... ORPHA:277
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Neutropenia, Absent circulating B cells, Recurrent otitis media, D... OMIM:613501
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia, Absence of CD... OMIM:269840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Recurrent oral herp... OMIM:619220
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... OMIM:615513
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Decreased s... OMIM:300853
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Increased circulating IgE level, Celiac disease, Eczema, Thyroiditis OMIM:618985
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Leukopenia, Lymphopenia, Cleft palate, Recurrent skin infections... OMIM:620210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Sepsis, Lymphopenia, Impaired T cell function, Lack of T ce... OMIM:267500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Kimura Disease
Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Recurrent respiratory infections, Glossitis, Gastroesophageal... ORPHA:90045
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis OMIM:216950
Immunodeficiency 23
Hemolytic anemia, Increased circulating IgM level, Severe varicella zoster infection, Recurrent r... OMIM:615816
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Eosinophilia, Familial
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Recurrent bronchitis OMIM:131400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Skin rash, Increased proportion of CD4-positive T ... OMIM:617099
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections OMIM:614102
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... ORPHA:35078
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Ulcerative colitis, Eos... ORPHA:555905
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Pyloric stenosis, Decrease... OMIM:615577
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Chronic oral c... OMIM:615758
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Recurrent otitis media, Recurrent pneu... OMIM:240500
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Gastritis, Neoplasm of the tongue... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Recurrent fungal infections, B lymphocytopenia, Reduced red... OMIM:102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Increased circulating IgE level, Sepsis, Lymphopenia, Aplasia of the thymus, Eosinophili... OMIM:602450
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Aplastic anemia, Colitis, Splenomegaly, Ac... OMIM:300635
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia OMIM:193670
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Glomerulonephritis, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, ... OMIM:304790
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Decreased circulating antibody l... OMIM:616740
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Malabsorption, Cutan... OMIM:209920
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Pyoderma, Crohn's disease, Folliculitis OMIM:613148
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Diarrhea, Panhypogammaglobulinemia, Pneumonia, B lymphocytopenia, C... OMIM:601457
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Thrombocytopenia, Decreased proportion of CD8-posit... OMIM:614493
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Autoimmu... OMIM:617388
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Skin rash, Decreased proportion of CD3-positive T cells, Hashimoto th... ORPHA:275
Immunodeficiency 88
BCGosis, Eosinophilia OMIM:619630
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Decreased specific pneumococcal antibody level, Liver abscess, Recurrent pneum... ORPHA:183675
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or ac... ORPHA:2056
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent viral infections, Aplastic anemia, Recurrent ear in... ORPHA:486
Roifman Syndrome
Hepatosplenomegaly, Eczema, Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased ... ORPHA:353298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Malabsorption, Colitis, Gastritis, C... ORPHA:37042
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Bl... OMIM:619079
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Splenomegaly ORPHA:98848
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... OMIM:613101
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Sodium-Dependent Multivitamin Transporter Deficiency
Episodic vomiting, Decreased circulating IgG level OMIM:618973
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Agammaglobulinemia, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to Haemophilus... OMIM:300755
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... OMIM:619652
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... ORPHA:572
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Reticular Dysgenesis
Chronic otitis media, Leukopenia, Skin rash, Malabsorption, Anemia, Abnormality of neutrophils, D... ORPHA:33355
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Immunodeficiency 43
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, Bronchiectasis,... OMIM:241600
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Colitis, Fulminant hepatitis, Histiocytosis, Increased circulating... ORPHA:2442
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 66
Meningitis, Pustule, Sepsis, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Reduced natural killer cell activity, Inc... OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Recurrent aphthous stomatitis, Intestinal obstructi... ORPHA:343
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Increased circulating interleukin 6 concentration, Inflam... OMIM:301074
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Autoimmunity, C3 nephritic factor positivity, Chronic kidney di... ORPHA:329918
Myeloma, Multiple
Paraproteinemia OMIM:254500
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Increased circulating IgE level, Recurrent pneumonia, Pustule, Vomiting OMIM:616069
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Colitis, Decreased circulating total IgA, Anoperineal fistula, Gastritis, D... OMIM:619381
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Hyper-Igd Syndrome
Increased circulating IgA level, Hepatosplenomegaly, Leukocytosis, Skin rash, Lymphadenitis, Chro... OMIM:260920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Recurrent bacterial skin infections, Sepsis, Decreased circulating... ORPHA:276
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Malar rash, Leukopenia, Skin rash, Anemia, Myositis, Lymphopenia... OMIM:615934
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Anti-glutamic acid decarboxylase antibody positivity, Transient... OMIM:610582
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Thrombocy... OMIM:615285
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Chronic oral candidiasis... OMIM:606367
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... OMIM:300291
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Selective Igm Deficiency
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... ORPHA:331235
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Anti-g... OMIM:616329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... OMIM:618495
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Immunodeficiency 7
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Chronic oral ca... OMIM:615387
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatosplenomegaly, Atopic dermatitis, Recurrent viral infection... OMIM:618999
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma, Eosinophilia OMIM:270300
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocy... OMIM:607624
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Chronic otitis media, Skin rash, Increased circulating IgE leve... ORPHA:2314
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... OMIM:275350
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Duodenitis, Villous atrophy, Bloody diarrhea, Pustu... OMIM:614328
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody level, Decreased DLCO, C... OMIM:178500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Reduced natural killer cell activity, Decreased circulating complement C3 concentra... OMIM:615559
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Eczema, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating ... OMIM:618116
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Aplasia/Hypoplasia of the spleen... ORPHA:227990
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Aspergillosis
Meningitis, Invasive pulmonary aspergillosis, Increased circulating IgE level, Eosinophilia, Hepa... ORPHA:1163
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Decreased circulating antibody leve... OMIM:617780
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Aplasia/Hypoplasia of the spleen... ORPHA:227982
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Pyloric stenosis, Lymphopenia, Meckel diverticulum, Neutropenia OMIM:616395
Alopecia Areata 1
Autoimmunity OMIM:104000
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatitis, Recurrent otit... ORPHA:444463
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, Re... OMIM:616005
Ménétrier Disease
Gastroesophageal reflux, Multiple gastric polyps, Helicobacter pylori infection, Stomach cancer, ... ORPHA:2494
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Anemia, Decrea... ORPHA:90362
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Lymphopenia, Eosinophilia, Decreased circulating antibody level, Erythroderma, Recu... OMIM:617425
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Recurrent infection of the g... OMIM:608184
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Lymphopenia, Increased circulating ... ORPHA:2688
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Autoimmunity OMIM:222100
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Uveitis, Recurrent pneumonia, Pancytopenia... OMIM:615122
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Malabsorption, Severe infection, Chronic oral candid... ORPHA:83471
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Chronic lymphatic leukemia, Monoclonal elevation of ci... ORPHA:91139
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level, Recurrent infections ORPHA:99811
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections OMIM:618092
Lymphangiectasia, Intestinal
Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Thrombocytopenia, Agamm... OMIM:619693
Immunodeficiency 81
Recurrent cutaneous abscess formation, Decreased proportion of class-switched memory B cells, Ski... OMIM:619374
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... OMIM:615190
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Splenomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia ORPHA:100025
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... OMIM:613496
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... ORPHA:567544
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Decreased circulating IgA level, Reduced natural killer cell count, ... OMIM:242860
Schnitzler Syndrome
Leukocytosis, Skin rash, Anemia, Arthritis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Omenn Syndrome
Hypoplasia of the thymus, Recurrent viral infections, Anemia, Severe B lymphocytopenia, Recurrent... OMIM:603554
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, C3 nephritic factor positivity, Stage 5 ... ORPHA:54370
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Dental malocclusion, Mandibular prognathia ORPHA:1858
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... OMIM:601495
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Intestinal lym... ORPHA:90363
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice, Hepatomegaly OMIM:243300
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Abnormality of the gastrointestinal tract, Atopic dermatitis, Leukocytosis, In... ORPHA:2902
Chylous Ascites
Pancreatitis ORPHA:1160
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Sepsis, Severe infection, Lymphopenia, Decreased eosinophil c... ORPHA:2686
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Cap Polyposis
Hematochezia, Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea ORPHA:160148
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia, ... ORPHA:2575
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Autosomal Agammaglobulinemia
Chronic otitis media, High palate, Skin rash, Malabsorption, Arthritis, Hepatitis, Sinusitis, Rec... ORPHA:33110
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Leukocytosis, Eosinophilia ORPHA:26137
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Leukocytosis, Hypochromic anemia, Increased circulating IgE lev... OMIM:618213
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... OMIM:600803
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Hematochezia, Leukocytosis, Atopic dermatitis, Anemia,... ORPHA:2070
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... OMIM:615952
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... OMIM:243150
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia ORPHA:100024
Pyoderma Gangrenosum
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Pust... ORPHA:48104
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Syndromic Diarrhea
Hypoplasia of the thymus, Intractable diarrhea, Colitis, Villous atrophy, Hepatoblastoma, Gastrit... ORPHA:84064
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Meningitis, Anemia, Skin rash, Uveitis, Arthritis, Eosinophilia OMIM:607115
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Decreased circulating total IgM, Gastroesophageal reflux, Anemia, Decreased cir... OMIM:620040
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... OMIM:266600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgM, Gastroesophageal reflux, Decreased specific antibody response to... ORPHA:221139
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Eczema, Splenomegaly OMIM:616651
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Anti-La/SS-B an... ORPHA:90283
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hepatomegaly, Hepatic steatosis ORPHA:79084
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent infections, Recurrent infection of the g... OMIM:615207
Omenn Syndrome
Leukocytosis, Anemia, Sepsis, Abnormal lymphocyte morphology, Erythroderma, Eosinophilia, Pneumon... ORPHA:39041
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hematochezia, Increased circulating antibody level, Skin rash, Hemolytic anemi... OMIM:615846
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Decreased circulating complement C3 concentration, Membr... OMIM:613779
Mixed Connective Tissue Disease
Myocarditis, Gastroesophageal reflux, Leukopenia, Hemolytic anemia, Skin rash, Keratoconjunctivit... ORPHA:809
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Malabsorption, Increased circulating IgE level, Ecze... ORPHA:634
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Abnorma... OMIM:613179
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Recurrent viral infections, Lymphopenia, Reduced delay... OMIM:242700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Autoimmunity, Nonketotic hypoglycemia, Hypoglycemic seizures, Hypoketotic ... ORPHA:293964
Diarrhea 6
Crohn's disease, Chronic diarrhea, Abdominal pain OMIM:614616
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... OMIM:301078
Immunodeficiency 12
Absent isohemagglutinin level, Abnormal lymphocyte count, Skin rash, Recurrent aphthous stomatiti... OMIM:615468
Tularemia
Leukocytosis, Increased circulating antibody level, Skin rash, Anemia, Inflammatory abnormality o... ORPHA:3392
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Zygomycosis
Peritonitis, Myocarditis, Colitis, Gastritis, Nausea, Splenic abscess, Endocarditis, Sinusitis, H... ORPHA:73263
Lymphoproliferative Syndrome 1
Stomatitis, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreas... OMIM:613011
Bloom Syndrome
Decreased circulating total IgM, Gastroesophageal reflux, Esophageal neoplasm, Cheilitis, Skin ra... ORPHA:125
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... ORPHA:507
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Multiple Myeloma
Increased circulating IgA level, Anemia, Functional abnormality of the gastrointestinal tract, In... ORPHA:29073
Primary Biliary Cholangitis
Increased circulating IgA level, Hepatocellular carcinoma, Gastrointestinal inflammation, Increas... ORPHA:186
Sjogren Syndrome
Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid ar... OMIM:270150
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Recurrent pneumonia, De... OMIM:612301
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Malabsorption, Anemia, Ar... ORPHA:47
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Infectious enceph... ORPHA:448237
Inclusion Body Myositis
Autoimmunity ORPHA:611
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Boutonneuse Fever
Maculopapular exanthema, Leukopenia, Skin rash, Increased circulating IgM level, Increased circul... ORPHA:83313
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arth... ORPHA:48377
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Sinusitis, Recurrent otitis media, Infectious ... OMIM:307200
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Eosinophilic Fasciitis
Myositis, Arthritis, Eosinophilia, Fasciitis, Abnormal eosinophil morphology ORPHA:3165
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Cholelith... ORPHA:65682
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia, Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell r... OMIM:619767
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Recurrent bronchitis, Recto... OMIM:612567
Xq28 (MECP2) duplication
Constipation, Gastroesophageal reflux, Decreased circulating IgA level, Dysphagia DECIPHER:45
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Increased circulating IgG4 level, Increased... ORPHA:449432
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Cystic Echinococcosis
Increased circulating antibody level, Abscess, Eosinophilia, Membranous nephropathy, Peritoneal a... ORPHA:400
Postinfectious Vasculitis
Increased circulating IgA level, Cryoglobulinemia, Gastrointestinal inflammation, Glomerulonephri... ORPHA:48435
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 59 And Hypoglycemia
Acne inversa, High palate, Decreased proportion of class-switched memory B cells, Complete or nea... OMIM:233600
Immunodeficiency 17
Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, Autoimmune hemolyt... OMIM:615607
Tempi Syndrome
Increased circulating IgG level, Hypoxemia, Transudative pleural effusion ORPHA:284227
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Eosinophilia OMIM:610247
Immunodeficiency 58
Chronic otitis media, Recurrent cutaneous abscess formation, Decreased specific antibody response... OMIM:618131
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Anti-thyrotropin receptor antibody, Diabetes mellitus, Compensated hypothyroidism, Impaired sensi... OMIM:274300
Immunodeficiency 47
Decreased circulating total IgM, Leukopenia, Normocytic anemia, Decreased circulating total IgA, ... OMIM:300972
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Impaired oxidative burst, Anal fissure, Lymphadenitis, Ulcerative colitis,... OMIM:618935
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Autoimmunity, Glomerulopathy, Decreased circulating complemen... ORPHA:79087
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Ebola Hemorrhagic Fever
Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Lymphopenia, Hepatitis... ORPHA:319218
Tropical Calcific Pancreatitis
Chronic pancreatitis, Neoplasm of the pancreas, Pancreatic calcification OMIM:608189
Caffey Disease
Respiratory insufficiency, Increased circulating antibody level ORPHA:1310
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Abnormality of the submandibular glands, Increased circulating I... ORPHA:79078
Mogs-Cdg
Hepatosplenomegaly, High palate, Decreased circulating total IgM, Chronic constipation, Decreased... ORPHA:79330
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Leukopenia, Abnormal salivary gland morphology, Skin rash, Osteo... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased ... OMIM:607143
Riddle Syndrome
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Arthritis, R... ORPHA:420741
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Pancreatitis, Lymphadenitis, Parotitis, Dysphagia, Eosinophilia... ORPHA:449427
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Elevated hepatic transaminase, Hyperinsulinemia ORPHA:329249
Good Syndrome
Anemia, Dysphagia, Sinusitis, Recurrent skin infections, Thrombocytopenia, Diarrhea, Bronchiectas... ORPHA:169105
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Anti-dsDNA antibody positivity, Autoimmune thrombocytopenia, Anti-U1 ribonucl... OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interferon-gamma concentration, Increased circulating IgA level, Macrogloss... OMIM:256040
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Chronic active hepatitis, Asplenia, Malabsorption, Chronic oral candidiasis... OMIM:240300
Fadd-Related Immunodeficiency
Autoimmune antibody positivity, Decreased liver function ORPHA:306550
Unclassified Myelodysplastic Syndrome
Autoimmunity, Abnormal lactate dehydrogenase level ORPHA:98827
Griscelli Syndrome
Leukopenia, Pyloric stenosis, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatitis,... ORPHA:381
Bloom Syndrome
Decreased circulating total IgM, Malar rash, Leukemia, Decreased circulating IgA level, Decreased... OMIM:210900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity, Pericarditis OMIM:609939
Coccidioidomycosis
Peritonitis, Coccidioidal meningitis, Granuloma, Increased circulating IgM level, Abnormality of ... ORPHA:228123
Mody
Neonatal hypoglycemia, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Transient neon... ORPHA:552
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Skin rash, Eosinophilia, Hepatitis, Infectious encepha... ORPHA:139402
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Bone Marrow Failure And Diabetes Mellitus Syndrome
Anti-glutamic acid decarboxylase antibody positivity, Anti-islet antigen-2 antibody positivity, T... OMIM:620044
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Anoperineal fistula, Colitis, Abdominal pain, Diarrhea, Recurrent ... OMIM:613960
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, High palate, Constipation, Allergic rhinitis, Eczema OMIM:618162
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Adrenal insufficiency, Hepatic steatosis OMIM:619386
Thymoma
Glomerulonephritis, Aplastic anemia, Pure red cell aplasia, Leukemia, Ulcerative colitis, Abnorma... ORPHA:99867
Icf Syndrome
Macroglossia, Anemia, Malabsorption, Abnormality of neutrophils, Lymphopenia, Protruding tongue, ... ORPHA:2268
Thymic Tumor
Dysphagia, Pericarditis, Dysgammaglobulinemia ORPHA:100100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Malabsorption, Increased circulating IgE level, Recurrent skin ... OMIM:615508
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic calcification, Pancreatic pseudocyst OMIM:167800
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating anti... OMIM:618165
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... ORPHA:69663
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal atresia, Atopic dermatitis, Gastroesophageal reflux, Esophageal stenosis, Vomiting, Es... ORPHA:411696
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Increased fecal calprotectin level, Decreased proporti... OMIM:619573
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis OMIM:620137
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Anti-liv... ORPHA:2137
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Pancreatitis, Portal inflammation, Hepatic fibrosis, Hepatic steatosis,... OMIM:603471
Adult-Onset Nemaline Myopathy
Paraproteinemia, High palate, Neuromuscular dysphagia ORPHA:171442
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Gastroesophageal reflux, Endocarditis, Tubulointerstitial nephritis, Malabsorption, ... ORPHA:183
Igg4-Related Kidney Disease
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Decrea... ORPHA:449395
Immunodeficiency 40
Rectal fistula, Eosinophilic granuloma, Focal active colitis, Chronic oral candidiasis, Severe va... OMIM:616433
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Splenomegaly ORPHA:228312
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abnormal intestine morphology, Anemia, Malabsorption, Intestinal obstruction, Diarrhea, Thrombocy... OMIM:226300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,... ORPHA:508533
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, High palate, Microcytic anemia, Recurrent pneumonia, Decreased circulating an... OMIM:619750
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Hepatic steatosis OMIM:618805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Systemic Lupus Erythematosus
Malar rash, Nephritis, Lupus nephritis, Arthritis, Systemic lupus erythematosus, Antinuclear anti... OMIM:152700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Skin rash, Anemia, Myositis, Lymphopenia, Arthritis, Sinusi... OMIM:617591
Scleroderma
Myocarditis, Hypereosinophilia, Abnormality of the gastrointestinal tract, Gastroesophageal reflu... ORPHA:801
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Anti-liver cytosolic antigen type 1 antibody p... ORPHA:562639
Microscopic Polyangiitis
Peritonitis, Autoimmunity, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, ... ORPHA:727
Pemphigus Erythematosus
Malar rash, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythem... ORPHA:79480
Anti-Glomerular Basement Membrane Disease
Proteinuria, Glomerulopathy, Autoimmunity, Anemia, Renal insufficiency, Persistence of primary te... ORPHA:375
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Increased circulating IgE level, Micrognathia, Hypoplasia of penis ORPHA:3409
Common Variable Immunodeficiency
Chronic otitis media, Anal atresia, Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, G... ORPHA:1572
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:158061
Bullous Lichen Planus
Pruritus ORPHA:33408
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma... ORPHA:79124
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Eosinophilia, Recurrent pneumonia, Melena, Pneumonia, Furrowed tongue, Chro... OMIM:158310
Prolidase Deficiency
High palate, Increased circulating antibody level, Anemia, Recurrent pneumonia, Thrombocytopenia,... OMIM:170100
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Autoimmunity, Abnormal circulating interleu... ORPHA:85410
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Igg4-Related Ophthalmic Disease
Cholangitis, Increased circulating IgG4 level, Orchitis, Colon cancer, Increased circulating IgE ... ORPHA:449563
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Stomatitis,... ORPHA:39812
Diffuse Alveolar Hemorrhage
Proteinuria, Autoimmunity, Leukocytosis, Anemia, Rheumatoid factor positive, Antineutrophil antib... ORPHA:90060
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Stomatitis, Recurrent aphthous stomatitis, Steatorrhea, Decreased circula... OMIM:212750
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hashimoto thyroiditis, Sepsis, Macrocytic anemia, Eosinophilia, Hepatitis, Cel... ORPHA:199299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly ORPHA:79312
Whim Syndrome
Meningitis, Sepsis, Severe periodontitis, Lymphadenitis, Recurrent bacterial infections, Lymphope... ORPHA:51636
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly ORPHA:289916
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:100
Macrocephaly/Autism Syndrome
High palate, Lymphopenia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly OMIM:605309
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Mastocytosis
Mastocytosis, Chronic leukemia, Splenomegaly, Acute leukemia ORPHA:98292
Preeclampsia
Autoimmunity, Type I diabetes mellitus, Elevated hepatic transaminase ORPHA:275555
Wolfram Syndrome 2
Gastric ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... OMIM:208900
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet function, Anemia,... ORPHA:167
Alveolar Echinococcosis
Cholangitis, Liver abscess, Increased circulating antibody level, Anemia, Abnormal spleen morphol... ORPHA:284
Lead Poisoning
Tubulointerstitial nephritis, Skin rash, Abnormality of humoral immunity, Increased circulating I... ORPHA:330015
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Chilblains, Membranoproliferative glomerulonephritis, Severe Epstein Bar... OMIM:619858
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Lymphatic Filariasis
Circulating immune complexes, Hypereosinophilia, Knee osteoarthritis, Glomerulonephritis, Orchiti... ORPHA:2035
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Anemia, Severe B lymphocytopenia, Decreased circulating IgA leve... OMIM:620005
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:399180
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cach Syndrome
Hepatosplenomegaly, Pancreatitis, Optic neuritis ORPHA:135
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level, High palate OMIM:606056
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Colitis, Hepatomegaly, Splenomegaly OMIM:615947
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Diabetes mellitus, Elevated circul... ORPHA:90003
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Wells Syndrome
Eosinophilia ORPHA:901
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Anterior uveitis, Pericardi... ORPHA:85414
Bullous Pemphigoid
Diabetes mellitus, Autoimmunity ORPHA:703
Car T Cell Therapy-Associated Cytokine Release Syndrome