Registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 4 receptor, alpha
Synonyms:
CD124,  Il4r,  IL-4 receptor alpha chain

IMPC Data Collections

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

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.

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 Il4ra 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 Il4ra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050

The table below shows human diseases predicted to be associated to Il4ra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 53
Recurrent infections, Recurrent respiratory infections, Recurrent otitis media OMIM:617585
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Decreased circulating IgG3 l... OMIM:619773
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia OMIM:617638
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... ORPHA:277
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Panhypogammaglobulinemia, Biliary tract abnormality, Recurrent vi... OMIM:209920
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eosinophilia... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymp... OMIM:619752
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased... OMIM:607271
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media OMIM:616941
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Asthma, Leukopenia, Monocytosis, Eczema, Refractory anemia, Bone marrow hypocellularity, Acute my... OMIM:616871
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:147060
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology, Arthritis ORPHA:2582
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Rhinorrhea, Pneumonia, Osteomyelitis, Chron... ORPHA:1163
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splen... OMIM:618394
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent ski... ORPHA:33110
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutrop... ORPHA:2688
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Rec... OMIM:615285
Peeling Skin Syndrome 1
Erythroderma, Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... OMIM:619924
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Decreased DLCO, Cough, Usual inter... OMIM:178500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... OMIM:301082
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pleura morphology, Cough, Res... ORPHA:724
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir... OMIM:308230
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia ORPHA:157991
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... ORPHA:449400
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Hypocalcemia, Osteomyelitis, Malabsorption, Skin rash, Glossoptosis... ORPHA:47
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Sepsis, Leukopenia, Chronic otitis media, Abnormalit... ORPHA:33355
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Rhinitis, Lymphopenia, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Otitis media, Decreased... ORPHA:70593
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypocellulari... ORPHA:443811
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... OMIM:619510
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Maculopapu... OMIM:619644
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, W... ORPHA:930
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Partial absence o... OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Netherton Syndrome
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Incr... OMIM:256500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis OMIM:234350
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegal... OMIM:269840
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Pneumonia, Fail... ORPHA:37042
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cys... ORPHA:723
Immunodeficiency 23
Asthma, Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoprol... OMIM:615816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hemophagocytosis, Hepatic fa... OMIM:308240
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, En... OMIM:243150
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Roifman Syndrome
Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon... ORPHA:353298
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopenia, Inflammation of... OMIM:618108
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:617388
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Atopic... ORPHA:2070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia, ... OMIM:601457
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8... OMIM:614493
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration, Myositis OMIM:253600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Chilblain Lupus
Increased circulating antibody level, Asthma, Discoid lupus rash, Inflammatory abnormality of the... ORPHA:90280
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Eosinophilia, Decreased circulating antibody level, Pancytopenia... ORPHA:90045
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, S... OMIM:616100
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis ORPHA:3165
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Interstitial pneumonitis, Eosinophilia, Myocarditis, Cough, He... ORPHA:139402
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... ORPHA:829
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Elevated circulating... ORPHA:186
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret... ORPHA:3261
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Chronic otitis media, Cough, Increased circulatin... ORPHA:2314
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Leukopenia, Increased circulating IgG level, Increased circul... ORPHA:83313
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Decreased response to growth hormon... OMIM:307200
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level, Hypoxemia, Transudative pleu... ORPHA:284227
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Netherton Syndrome
Asthma, Skin rash, Eczema, Decreased circulating antibody level, Emphysema, Erythroderma, Increas... ORPHA:634
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating a... ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Hepatosplenomegaly, Eosinophilia, Atopic dermatitis, Membranous nephropathy, Colonic eosi... OMIM:618999
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Nephritis, Comple... ORPHA:449427
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... OMIM:616576
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:613812
Cystic Echinococcosis
Increased circulating antibody level, Asthma, Hyperbilirubinemia, Multiple pulmonary cysts, Abnor... ORPHA:400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... OMIM:615559
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Pneumonia, Erythroderma... ORPHA:39041
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, W... OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Eos... ORPHA:183
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections OMIM:610680
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent otitis ... OMIM:614379
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia OMIM:618092
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Tularemia
Respiratory distress, Increased circulating antibody level, Cutaneous abscess, Conjunctivitis, Le... ORPHA:3392
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Roifman Syndrome
Splenomegaly, Eosinophilia, Eczema, Recurrent pneumonia, Recurrent otitis media OMIM:616651
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Maculopapular exanthema, Sepsis, Leuko... ORPHA:319218
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Pyloric stenosi... ORPHA:381
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Pustule, Skin rash, Leukopenia, Increased circulati... OMIM:615934
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Pancolitis, Eosinophilic infilt... OMIM:618213
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Decre... ORPHA:449395
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Immunodeficiency 49
Eosinophilia, Inflammatory abnormality of the skin, Lymphopenia, Pulmonary artery stenosis OMIM:617237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... OMIM:600802
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... OMIM:614878
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Hepatic failure, Skin rash, Sepsis, Leukopenia, Cholestasis, Abnorm... ORPHA:292
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... OMIM:615577
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Graft Versus Host Disease
Recurrent gastroenteritis, Failure to thrive, Inflammatory abnormality of the skin, Elevated circ... ORPHA:39812
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... ORPHA:36234
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Hepatitis, Villous atrophy, Auto... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... OMIM:301078
Cyclic Neutropenia
Sinusitis, Periodontitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Pe... ORPHA:2686
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Pfapa Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali... ORPHA:42642
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... OMIM:618042
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Oral-ph... ORPHA:100083
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... ORPHA:507
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... ORPHA:540
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... OMIM:614602
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Sepsis, Elevated circulating ... ORPHA:454836
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level OMIM:241600
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Microglossia, Weight loss, Cleft palate ORPHA:141152
Q Fever
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss, Increas... ORPHA:781
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ... OMIM:158310
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Felty Syndrome
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomeg... ORPHA:47612
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Lead Poisoning
Asthma, Skin rash, Anemia, Abnormality of humoral immunity, Tubulointerstitial nephritis, Imbalan... ORPHA:330015
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, A... OMIM:615607
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Otitis media, Respiratory insufficiency, Hypoplasia of the thymus, Mon... OMIM:612541
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Macrocephaly/Autism Syndrome
Recurrent infections, Decreased circulating antibody level, Splenomegaly, Lymphopenia OMIM:605309
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... OMIM:615122
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Hepatitis, ... OMIM:613385
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... ORPHA:284
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... ORPHA:228426
Legionnaires Disease
Lymphopenia, Pancreatitis, Splenomegaly, Sepsis, Endocarditis, Myocarditis, Hepatitis, Recurrent ... ORPHA:549
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis,... ORPHA:228123
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Melioidosis
Unusual skin infection, Splenic abscess, Prostatitis, Sepsis, Osteoarthritis, Brain abscess, Abno... ORPHA:31202
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,... ORPHA:2442
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia OMIM:619693
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Stomatiti... OMIM:613011
Loeffler Endocarditis
Dyspnea, Eosinophilia, Pericarditis, Cough ORPHA:75566
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Complement deficiency, Eosinophilia, Increased... ORPHA:449432
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancrea... ORPHA:449563
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, Anemia ORPHA:37748
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Elevated circulati... OMIM:301074
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Wells Syndrome
Eosinophilia ORPHA:901
Scleroderma
Keratitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myelitis, Myocardit... ORPHA:801
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the l... OMIM:608809
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... ORPHA:848
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P... OMIM:242860
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Abnormal circulating polysaccharide concen... ORPHA:103910
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... OMIM:614921
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormality o... ORPHA:54251
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Hepatomegaly,... OMIM:615846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Microsporidiosis
Keratitis, Pancreatitis, Sepsis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Glossitis... ORPHA:2552
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... ORPHA:199299
Hirschsprung Disease
Sepsis, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight loss, ... ORPHA:388
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... ORPHA:91139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn... ORPHA:3260
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia, Macrocy... ORPHA:227990
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, R... ORPHA:171876
Aggressive Systemic Mastocytosis
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Elevated cir... ORPHA:98850
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia, Autoimm... ORPHA:227982
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia,... OMIM:208085
Immunodeficiency 58
Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Seborrheic dermatitis, Eczema... OMIM:618131
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Giant cell hepatitis, Cholestatic liver disease, Hepatomegaly, Elevated hepati... OMIM:613404
Lymphatic Filariasis
Orchitis, Circulating immune complexes, Lymphadenitis, Cough, Wheezing, Epididymitis, Hypereosino... ORPHA:2035
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia ORPHA:171442
Brucellosis
Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Pericarditis, Septic arthritis, Osteom... ORPHA:1304
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... OMIM:613662
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Rift Valley Fever
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Severe viral infection, Elevated... ORPHA:319251
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... ORPHA:298
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulating C-reactive prot... OMIM:617099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Failure to thrive, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acu... OMIM:238970
Tuberculosis
Weight loss ORPHA:3389
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Skin rash, Splenomegaly, Myositis, ... OMIM:617591
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Inflammation of the large intestine, Intestinal obstruction, Recurrent aphthous ... OMIM:266600
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictiv... ORPHA:67
Prolidase Deficiency
Increased circulating antibody level, Asthma, Splenomegaly, Eczema, Chronic lung disease, Recurre... OMIM:170100
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Weight loss, Decreased intestinal transit time OMIM:620045
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:586
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... ORPHA:3226
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Hepatit... ORPHA:436252
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... ORPHA:324964
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Abnormal ... ORPHA:797
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Eso... OMIM:277900
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... OMIM:610199
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Acute infectious pneumonia, ... ORPHA:73263
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Elevated circulating C-reac... ORPHA:767
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Decreased response to growth hormone stimulati... OMIM:203800
Kaposi Sarcoma
Skin rash, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Recurrent herpes... ORPHA:33276
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconjunctiviti... OMIM:269200
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Cough, Decreased circulating... ORPHA:169105
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine, Abnormality of the peri... ORPHA:26790
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Mccune-Albright Syndrome
Hypophosphatemia, Pancreatitis, Gastroesophageal reflux, Benign gastrointestinal tract tumors, El... ORPHA:562
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Decreased circulating IgA level, Malabsorption, Intussusception, Cirr... ORPHA:90363
Bullous Pemphigoid
Eczema, Weight loss, Recurrent infections, Psoriasiform dermatitis ORPHA:703
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Primary Sjögren Syndrome
Chronic active hepatitis, Increased circulating antibody level, Arthritis, Arteritis, Lymphopenia... ORPHA:289390
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Ileoileal intussusception, Incr... OMIM:619377
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Po... ORPHA:440713
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Blepharitis, Conjunctivitis, Recurrent intrapulmonary hemorrhage... ORPHA:906
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Nephritis, Skin rash, Leuko... ORPHA:2298
Mast Cell Sarcoma
Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly ORPHA:66661
Oculopharyngodistal Myopathy
High palate, High, narrow palate, Impaired oropharyngeal swallow response, Recurrent aspiration p... ORPHA:98897
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Recurrent urinary tract infections, Hepatitis, Recurrent infections, Recurr... ORPHA:1334
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Increased circulating IgM level, Infecti... ORPHA:448237
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... ORPHA:2930
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Gastrointestinal infarctions, Gastrointes... ORPHA:91138
Thymoma
Rheumatoid arthritis, Aplastic anemia, Myositis, Neoplasm of the gastrointestinal tract, Imbalanc... ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hepatomegaly, Gastroesophageal reflux, Decreased circulating apolipopro... ORPHA:85450
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Skin rash, Juvenile rheumatoid arthritis, ... ORPHA:1855
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Iridocyclitis, Chronic active hepatitis, Chronic oral candidi... OMIM:240300
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Hypercalcemia, Weight loss, Thrombocytopenia ORPHA:69077
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hepatomegaly, Splenomegaly ORPHA:86893
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Elevated bronchoalveolar lavage fluid lympho... OMIM:181000
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Recurrent urinary tract infections, Chilblai... OMIM:619487
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... ORPHA:329918
Al Amyloidosis
Increased circulating antibody level, Hepatomegaly, Elevated circulating alkaline phosphatase con... ORPHA:85443
Follicular Lymphoma
Weight loss, Meningitis, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Eczema, Iron defic... OMIM:212750
Idiopathic Bronchiectasis
Cachexia, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Recurrent Hae... ORPHA:60033
Wolman Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Cachexia, Esophageal varix, Anemia, Bon... ORPHA:75233
Congenital Isolated Acth Deficiency
Hepatitis, Hyponatremia, Prolonged neonatal jaundice ORPHA:199296
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... ORPHA:31205
Huntington Disease-Like 2
Weight loss ORPHA:98934
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine, Hematochezia OMIM:191390
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Myelitis, Increased circulating IgG level, Abnormality of serum cytokin... ORPHA:297
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Cachexia, Xerostomia, Hematochezia, Glo... OMIM:175500
Hodgkin Lymphoma
Weight loss, Hepatomegaly, Splenomegaly ORPHA:98293
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Incontinentia Pigmenti
Keratitis, Skin rash, Eosinophilia, Uveitis, Infectious encephalitis, Pulmonary arterial hyperten... ORPHA:464
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron... OMIM:300972
Acute Disseminated Encephalomyelitis
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Disseminated viral infect... ORPHA:83597
Pemphigus Vulgaris
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Erythrokeratodermia Variabilis
Weight loss, Skin rash, Abnormal testis morphology ORPHA:317
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Hypopla... OMIM:208900
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Cachexia, Testicular neoplasm, A... ORPHA:83469
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss ORPHA:391
Myasthenia Gravis
Rheumatoid arthritis, Myositis, Hemolytic anemia, Hepatitis, Pure red cell aplasia, Hashimoto thy... ORPHA:589
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Weight loss, Anemia, Recurrent respiratory infections ORPHA:1842
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Eczema, Keratoconjunctivitis, Perioral eczema, Weight loss, Thrombocytopenia ORPHA:79242
Gaucher Disease Type 1
Increased circulating antibody level, Splenomegaly, Leukopenia, Osteoarthritis, Abnormal pulmonar... ORPHA:77259
Takayasu Arteritis
Arthritis, Weight loss, Increased inflammatory response, Gastrointestinal infarctions, Anemia, In... ORPHA:3287
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Seborrheic ... OMIM:274000
Incontinentia Pigmenti
Keratitis, Leukocytosis, Maculopapular exanthema, Eosinophilia, Uveitis OMIM:308300
Pyomyositis
Leukocytosis, Sepsis, Myositis, Testicular teratoma, Recurrent infections, Weight loss, Recurrent... ORPHA:764
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent infections, Recurren... ORPHA:1493
Whipple Disease
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Myocarditis, Pericarditis, Arthrit... ORPHA:3452
Bloom Syndrome
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... ORPHA:125
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Nephritis, Splenomegaly, Leukopenia,... OMIM:617303