Gene: Il4ra MGI:105367

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

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 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.

Human diseases associated with Il4ra (1 diseases)
Human diseases predicted to be associated with Il4ra (769 diseases)

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	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 95	Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l...	OMIM:619773
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Recurrent infections, Decreased circulating IgG level	OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs...	OMIM:618944
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Recurrent infections	OMIM:235900
Immunodeficiency 24	Decreased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Reduced proportion of mu...	OMIM:615897
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,...	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
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in...	OMIM:613495
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron...	OMIM:618982
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia...	OMIM:617638
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, D...	OMIM:615615
Immunodeficiency 86	Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif...	OMIM:613494
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop...	OMIM:619281
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp...	OMIM:605258
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD...	OMIM:312863
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti...	OMIM:247800
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul...	OMIM:619632
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 15B	Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i...	OMIM:615592
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections...	OMIM:606843
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ...	OMIM:300400
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Abnormal lymp...	OMIM:609529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Inflammatory abnormality of the sk...	ORPHA:277
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Decreased circulating antibody level, Hepatitis, Folliculitis, ...	OMIM:300635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini...	OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re...	OMIM:613500
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport...	OMIM:212050
Immunodeficiency, Common Variable, 11	Crohn's disease, Inflammation of the large intestine, Decreased proportion of class-switched memo...	OMIM:615767
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Recurrent respiratory infections, Bronchiectasis, Monocyt...	OMIM:226990
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l...	OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Recurrent otitis media,...	OMIM:613502
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Atopic dermatitis, Asthma, Hypoxemia, Increased circulating IgE level, Pleural...	ORPHA:2902
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti...	OMIM:614699
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Recurrent infections, Decreased circulating total IgM	OMIM:606445
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast...	ORPHA:217390
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Neutropenia, Leukemia, Increased circulating antibody level, Lymp...	OMIM:614470
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ...	OMIM:243700
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci...	ORPHA:169160
Bare Lymphocyte Syndrome, Type Ii	Biliary tract abnormality, Viral hepatitis, Colitis, Recurrent viral infections, Panhypogammaglob...	OMIM:209920
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, R...	OMIM:608106
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in...	OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Cutan...	OMIM:619752
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci...	OMIM:619707
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic oral ...	OMIM:615401
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Asthma, Ec...	OMIM:607271
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Immunoglobulin A Deficiency 1	Recurrent infection of the gastrointestinal tract, Recurrent infections, Decreased circulating Ig...	OMIM:137100
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG...	OMIM:233650
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM	OMIM:610798
Immunodeficiency 64 With Lymphoproliferation	Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Defective T cell proli...	OMIM:618534
Immunodeficiency 11	Recurrent respiratory infections, Monocytopenia, Decreased circulating antibody level, Decreased ...	OMIM:615206
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Bone marrow hypocellularity, Refractory anemi...	OMIM:616871
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin...	OMIM:619802
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinus...	OMIM:618282
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, C...	OMIM:612692
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia, Periodontitis	OMIM:162700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent sinopulmonary infectio...	OMIM:147060
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ...	ORPHA:572
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl...	OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Decreased lymphocyte prol...	ORPHA:169154
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul...	OMIM:615513
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, Recurrent infections, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Immunodeficiency 61	Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev...	OMIM:300310
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia	ORPHA:2582
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Recurrent respiratory i...	OMIM:615214
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec...	OMIM:613501
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Increased inflammatory response, Pneumo...	OMIM:209950
Aspergillosis	Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Abnormal...	ORPHA:1163
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, High palate, Bronchiectasis, Neutropenia, Hepatitis, Skin rash, Ar...	ORPHA:33110
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcer...	OMIM:618394
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C...	OMIM:601859
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	OMIM:267500
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Acute Myelomonocytic Leukemia	Anemia, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ...	OMIM:618986
Immunodeficiency 67	Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased...	OMIM:607676
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased...	OMIM:617765
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Juvenile Temporal Arteritis	Conjunctivitis, Eosinophilia, Leukocytosis, Allergic rhinitis	ORPHA:26137
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym...	OMIM:619924
Thymic Aplasia	Hypocalcemic tetany, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus ...	ORPHA:83471
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i...	OMIM:607594
Immunodeficiency 56	Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Pneumocystis jirovecii pneu...	OMIM:615207
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Reduced natural killer cell count, Recurrent cutaneous funga...	ORPHA:276
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe...	OMIM:178500
Idiopathic Acute Eosinophilic Pneumonia	Respiratory insufficiency, Abnormal pleura morphology, Abnormal eosinophil morphology, Restrictiv...	ORPHA:724
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym...	ORPHA:331206
Immunodeficiency 102	Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre...	OMIM:301082
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Pustule	OMIM:616069
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections	OMIM:614102
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections...	OMIM:613953
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Meningitis, Hepatomegaly, Thrombocytopenia, Impaired memory B cell genera...	OMIM:308230
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Glossoptosis, Weight loss, Hepatitis, Skin ra...	ORPHA:47
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Increased circulating IgE level, Eczema	OMIM:618985
Immunodeficiency 44	Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,...	OMIM:616636
Igg4-Related Aortitis	Hypereosinophilia, Increased circulating IgG4 level, Asthma, Increased circulating antibody level...	ORPHA:449400
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut...	ORPHA:486
Reticular Dysgenesis	Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Malabsorption, Skin rash, ...	ORPHA:33355
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphocytic interst...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iia	Malar rash, Splenomegaly, Increased B cell count, Elevated proportion of CD4-negative, CD8-negati...	OMIM:603909
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma...	ORPHA:443811
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,...	OMIM:619510
Immunodeficiency 33	Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections...	OMIM:300636
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Maculopapular exanthema, Leukemia	ORPHA:157991
Whim Syndrome 1	Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory...	OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Eosinophilia, Pneumonia, Splenomegaly, Decreased circulating t...	OMIM:102700
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Membranoprolifera...	OMIM:619644
Idiopathic Achalasia	Gastroesophageal reflux, Decreased prealbumin level, Weight loss, Recurrent aspiration pneumonia,...	ORPHA:930
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Recu...	OMIM:618261
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision...	OMIM:602450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 70	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre...	OMIM:618969
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Netherton Syndrome	Hypereosinophilia, Allergic rhinitis, Asthma, Erythroderma, Increased circulating IgE level, Decr...	OMIM:256500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Recurrent respiratory infections, Recurrent...	OMIM:300853
Macrophage Activation Syndrome	Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan...	ORPHA:158061
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma...	ORPHA:183675
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Halothane Hepatitis	Hepatitis, Viral hepatitis, Eosinophilia	OMIM:234350
Immunodeficiency 48	Recurrent candida infections, Panhypogammaglobulinemia, Recurrent respiratory infections, Failure...	OMIM:269840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Elevated hepatic transami...	ORPHA:37042
Immunodeficiency, Common Variable, 2	Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent...	OMIM:240500
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Decreased lymphocyt...	ORPHA:911
Immunodeficiency 46	Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary i...	OMIM:616740
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Recurrent infections, Extramedullary he...	OMIM:615285
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media...	ORPHA:353298
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis...	OMIM:617514
Pneumocystosis	Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an...	ORPHA:723
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi...	ORPHA:1164
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Chronic oral candidiasis, Recurrent respiratory infections, T lymphocyto...	OMIM:606367
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 23	Neutropenia, Bronchiectasis, Allergic rhinitis, Asthma, Hemolytic anemia, Increased circulating I...	OMIM:615816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au...	ORPHA:444463
Lymphoproliferative Syndrome, X-Linked, 1	Severe Epstein Barr virus infection, Meningitis, Hepatomegaly, Aplastic anemia, Thrombocytopenia,...	OMIM:308240
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen...	OMIM:304790
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intestinal atresia, En...	OMIM:243150
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Pancytopen...	OMIM:616873
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Inc...	OMIM:618048
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Decreased circulating total IgM, Recurrent lower re...	OMIM:615139
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Increased circulating IgE level, Erythroderma	OMIM:614328
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant...	OMIM:618108
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu...	OMIM:617388
Cinca Syndrome	Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Elevated circulating C-reactive protei...	OMIM:607115
Eosinophilic Gastroenteritis	Anemia, Allergic rhinitis, Asthma, Elevated circulating C-reactive protein concentration, Leukocy...	ORPHA:2070
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensit...	OMIM:607624
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Carcinoma Of Esophagus	Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag...	ORPHA:70482
African Iron Overload	Hepatic fibrosis, Hepatitis, Chronic infection, Elevated transferrin saturation, Hepatocellular c...	ORPHA:139507
Iga Pemphigus	Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess...	ORPHA:555905
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8...	OMIM:614493
Thrombocytopenia 1	Eczema, Increased circulating IgE level, Epistaxis, Increased circulating IgA level, Congenital t...	OMIM:313900
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre...	OMIM:614069
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Cough, Eosinophilia, Recurrent respiratory infections, Increase...	ORPHA:2314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,...	ORPHA:275
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy...	ORPHA:90045
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis...	OMIM:619652
Chilblain Lupus	Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ...	ORPHA:90280
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Bronchiectasis,...	OMIM:619705
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c...	OMIM:616100
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Hepatitis, Interstitial pneumonitis, Skin rash, Thyroiditis, Lympho...	ORPHA:139402
Eosinophilic Fasciitis	Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia	ORPHA:3165
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia...	OMIM:601457
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated...	ORPHA:829
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s...	OMIM:607765
Wiskott-Aldrich Syndrome	Recurrent sinusitis, Eczema, Eosinophilia, Decreased proportion of CD4-positive helper T cells, T...	OMIM:301000
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Bone marrow hyp...	ORPHA:3261
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Decreased circulating total IgM, Recurrent respiratory infections, Decreased circula...	ORPHA:2643
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody...	OMIM:301081
Boutonneuse Fever	Leukopenia, Skin rash, Increased circulating IgM level, Respiratory failure, Thrombocytopenia, Ma...	ORPHA:83313
Primary Biliary Cholangitis	Onychomycosis, Recurrent fungal infections, Abnormal circulating lipid concentration, Biliary cir...	ORPHA:186
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Immunodeficiency 43	Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine...	OMIM:241600
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Fat malabsorption, Abnormal serum bile acid concentration, Hyperbilirubinemia, E...	ORPHA:79303
Immunodeficiency 7	Hypereosinophilia, Chronic oral candidiasis, Neutropenia, Recurrent otitis media, Autoimmune hemo...	OMIM:615387
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr...	OMIM:616005
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Tempi Syndrome	Increased hematocrit, Hypoxemia, Polycythemia, Transudative pleural effusion, Increased circulati...	ORPHA:284227
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E...	OMIM:603554
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Per...	OMIM:615758
Netherton Syndrome	Decreased circulating antibody level, Asthma, Skin rash, Eczema, Emphysema, Erythroderma, Increas...	ORPHA:634
Autoinflammation, Immune Dysregulation, And Eosinophilia	Asthma, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Atopic dermatitis, Membranous nep...	OMIM:618999
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Abnormal natural killer cell physiology, Decr...	OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec...	ORPHA:35078
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr...	OMIM:616576
Cystic Echinococcosis	Abnormal subpleural morphology, Peritoneal abscess, Asthma, Increased circulating antibody level,...	ORPHA:400
Autoimmune Hepatitis	Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ...	ORPHA:2137
Immunodeficiency 82 With Systemic Inflammation	T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Hype...	OMIM:619381
Igg4-Related Pachymeningitis	Lymphadenitis, Increased circulating IgG4 level, Nephritis, Abnormal lung morphology, Dyspnea, Si...	ORPHA:449427
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin...	OMIM:614379
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Fat malabsorption, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased ...	OMIM:214950
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini...	OMIM:615559
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Increased stool alpha1-antitrypsin concentration, Decreased circulat...	ORPHA:90362
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Recurrent respiratory infections	ORPHA:2571
Omenn Syndrome	Anemia, Thyroiditis, Eosinophilia, Erythroderma, Leukocytosis, Pneumonia, Splenomegaly, Abnormal ...	ORPHA:39041
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Endocarditis, Tubulointerstitial nephritis, Abnormal pleura morphology...	ORPHA:183
Tularemia	Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk...	ORPHA:3392
Postinfectious Vasculitis	Severe Epstein Barr virus infection, Recurrent Staphylococcus aureus infections, Elevated haptogl...	ORPHA:48435
Esophagitis, Eosinophilic, 2	Esophagitis, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Esophagitis, Eosinophilia	OMIM:610247
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r...	OMIM:613496
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol...	OMIM:618213
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat...	ORPHA:381
Roifman Syndrome	Eczema, Recurrent otitis media, Recurrent pneumonia, Eosinophilia, Splenomegaly	OMIM:616651
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Ebola Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Gas...	ORPHA:319218
Hepatocellular Carcinoma	Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis	OMIM:114550
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Hyperbilirubinemia, Inf...	ORPHA:39812
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia	OMIM:300299
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Malar rash, Skin rash, Lymphopenia, Myositis, Pustule, Pustular rash, Increas...	OMIM:615934
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso...	ORPHA:391487
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:300861
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased proportion of clas...	OMIM:614878
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract	ORPHA:52416
Congenital Enterovirus Infection	Leukopenia, Anemia, Hepatic failure, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin...	ORPHA:292
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Recurrent sinusitis, Recurrent otitis media, Frequent Giardia la...	OMIM:615577
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Wilson Disease	Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He...	ORPHA:905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur...	OMIM:600802
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Periportal fib...	ORPHA:101330
Bacterial Toxic-Shock Syndrome	Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myositis, Glomer...	ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:611182
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease...	OMIM:614700
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Jejunitis, Villous atrophy, Inflammatory abnormalit...	ORPHA:398063
Primary Sclerosing Cholangitis	Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Cholangiocarcinoma, El...	ORPHA:171
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti...	OMIM:615518
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Cyclic Neutropenia	Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Decreased eosinophil...	ORPHA:2686
Avian Influenza	Conjunctivitis, Leukopenia, Myelitis, Hepatitis, Elevated hepatic transaminase, Lymphopenia, Elev...	ORPHA:454836
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis media, Autoimmune hemolytic anemia,...	OMIM:301078
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Weight loss, Oral-ph...	ORPHA:100083
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Increased circulating ...	ORPHA:507
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circulating antibod...	OMIM:618042
Trichohepatoenteric Syndrome 2	Cirrhosis, Villous atrophy, Small for gestational age, Decreased serum iron, Failure to thrive, C...	OMIM:614602
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Weight loss, Multipl...	ORPHA:2494
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A...	ORPHA:2198
Pfapa Syndrome	Weight loss, Malabsorption, Arthritis, Recurrent pharyngitis, Hepatomegaly, Infectious encephalit...	ORPHA:42642
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Increased in...	ORPHA:69126
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R...	OMIM:601495
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti...	OMIM:300291
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Colitis, Erythr...	ORPHA:540
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ...	OMIM:242700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Mu-Heavy Chain Disease	Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Hepatomegaly, S...	ORPHA:100024
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunodeficiency 21	Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer...	OMIM:614172
Immunodeficiency 17	Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m...	OMIM:615607
Insulin Autoimmune Syndrome	Increased circulating antibody level, Arthralgia/arthritis	ORPHA:411593
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Microglossia, Aspiration pneumonia, Weight loss	ORPHA:141152
Secondary Short Bowel Syndrome	Sepsis, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic ...	ORPHA:95427
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia...	ORPHA:449395
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Meningitis, Hepatomegaly, Thromb...	ORPHA:781
Lead Poisoning	Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Asthma, Skin rash, Abnormal res...	ORPHA:330015
Felty Syndrome	Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Sepsis, ...	ORPHA:47612
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration...	ORPHA:90003
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Anemia, Hypoplasia of the...	OMIM:612541
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Granuloma, Hyperbilirubinemia, Interface hepatitis, Scleros...	ORPHA:562639
Legionnaires Disease	Endocarditis, Splenomegaly, Hepatitis, Jaundice, Recurrent pharyngitis, Lymphopenia, Pericarditis...	ORPHA:549
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	OMIM:615122
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Hypersplenism, Pancytopenia, Hashimoto thyroiditis, Decreased...	OMIM:613385
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Recurrent ...	OMIM:617780
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Coccidioidomycosis	Exudative pleural effusion, Pericarditis, Panniculitis, Eosinophilia, Pneumonia, Abscess, Osteomy...	ORPHA:228123
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Thyroiditis, Hyperspl...	ORPHA:228426
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th...	OMIM:613011
Alveolar Echinococcosis	Anemia, Increased circulating antibody level, Liver abscess, Abnormal spleen morphology, Cutaneou...	ORPHA:284
X-Linked Lymphoproliferative Disease	Severe Epstein Barr virus infection, T lymphocytopenia, Elevated hepatic transaminase, Hepatosple...	ORPHA:2442
Melioidosis	Septic arthritis, Brain abscess, Sepsis, Prostatitis, Abnormal parotid gland morphology, Hepatiti...	ORPHA:31202
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Increased circulating interleukin 6 concentration, Perianal ab...	OMIM:301074
Loeffler Endocarditis	Pericarditis, Dyspnea, Eosinophilia, Cough	ORPHA:75566
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells	OMIM:619693
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci...	ORPHA:449432
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating ep...	ORPHA:227990
Schnitzler Syndrome	Anemia, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Prostatitis, Thyroiditis, Cholangitis, Abnormal lung morphology...	ORPHA:449563
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Autoimmune hypoparathyroidism, Leukopenia, Atrophic gastritis, Non-...	ORPHA:227982
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr...	OMIM:613179
Scleroderma	Pulmonary arterial hypertension, Hypereosinophilia, Abnormal pulmonary interstitial morphology, M...	ORPHA:801
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu...	OMIM:158310
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Malabsorption, Jaundice, Elevated hepatic transaminase, Cholecystitis, In...	ORPHA:131
Beta-Thalassemia	Splenomegaly, Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Thrombocytopenia,...	ORPHA:848
Immunodeficiency 31C	Recurrent vulvovaginal candidiasis, Bronchiectasis, Eczema, Hepatomegaly, Protein-losing enteropa...	OMIM:614162
Pyoderma Gangrenosum	Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat...	ORPHA:48104
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Sinusitis, Decreased circul...	OMIM:242860
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Hepatitis, Bifid uvula, Elevated hep...	OMIM:614921
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc...	ORPHA:103910
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Sepsis, Weight loss, Hepatitis, Normocytic anemia, Hyperkalemia, Pituitary adenoma...	ORPHA:199299
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Biliary hyperplasia, Hepatic fibrosis, Cirrhosis, Villous atrophy, Hepatic failure,...	ORPHA:567983
Aicardi-Goutieres Syndrome 7	Splenomegaly, Atrophic gastritis, Anemia, Hemolytic anemia, Weight loss, Recurrent lower respirat...	OMIM:615846
Microsporidiosis	Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o...	ORPHA:2552
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Recurrent respiratory infections	ORPHA:363523
Caroli Disease	Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,...	ORPHA:53035
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Abnormality of the pancreas, Abnormal testis morphology, Weight loss, Live...	ORPHA:54251
Hirschsprung Disease	Weight loss, Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intesti...	ORPHA:388
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Arthritis, Monoclonal elevat...	ORPHA:91139
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Idiopathic Hypereosinophilic Syndrome	Eczema, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Colitis, Erythroderma, Myeloprolifera...	ORPHA:3260
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Osteomyelitis, Weight loss, Hyperkalemia, Increased circulating renin level, Recu...	ORPHA:171876
Wells Syndrome	Eosinophilia	ORPHA:901
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons...	ORPHA:508533
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl...	OMIM:619767
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Small for gestational age, Jaundice, Elevated hepatic transaminase,...	OMIM:208085
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Elevated ci...	ORPHA:79095
Aggressive Systemic Mastocytosis	Anemia, Neutropenia, Weight loss, Elevated total serum tryptase, Malabsorption, Hypersplenism, Pa...	ORPHA:98850
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acu...	OMIM:238970
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati...	OMIM:610199
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Elevated hepatic transaminase, Lissencephaly, Failure to thrive, Giant cell hepatitis, ...	OMIM:613404
Rift Valley Fever	Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Severe viral infection, Uv...	ORPHA:319251
Focal Myositis	Myositis, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr...	ORPHA:209902
Immunodeficiency 58	Recurrent aphthous stomatitis, Chronic bronchitis, Decreased T cell activation, Bronchiectasis, A...	OMIM:618131
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Epididymitis, Circulating immune complexes, Glomerulonephritis,...	ORPHA:2035
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Weight loss, Malabsorption, Cachexia, Gastrointestinal dysmotility, Slender build, Intestinal pse...	OMIM:613662
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pleural effusion, Pericarditis, Glome...	ORPHA:1304
Adult-Onset Nemaline Myopathy	Paraproteinemia, Reduced vital capacity, Respiratory insufficiency due to muscle weakness	ORPHA:171442
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Chronic infection, Hypersplenism, R...	ORPHA:231226
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased...	OMIM:275350
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Crohn's disease, Weight loss, Ulcerative colitis, Inflammation of ...	OMIM:266600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Neutrophilia, Increased circulating IgA level, Increased circulating IgM level, Pannic...	OMIM:617099
Majeed Syndrome	Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Malabsorption, Synovitis, Cache...	ORPHA:77297
Tuberculosis	Weight loss	ORPHA:3389
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ...	OMIM:617591
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Anemia, Hyperalaninemia, Cirrhosis, Weight loss, Small intestinal dysmot...	ORPHA:298
Prolidase Deficiency	Anemia, Crusting erythematous dermatitis, Increased circulating antibody level, Asthma, Eczema, C...	OMIM:170100
Benign Recurrent Intrahepatic Cholestasis	Cirrhosis, Weight loss, Cholestatic liver disease, Jaundice, Hepatocellular carcinoma, Acholic st...	ORPHA:65682
Amoebiasis Due To Entamoeba Histolytica	Anemia, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess, Elevated circula...	ORPHA:67
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Intestinal Dysmotility Syndrome	Failure to thrive, Decreased intestinal transit time, High palate, Weight loss	OMIM:620045
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Weight loss, Chronic otitis media, Abnormal neutrophil count, B...	ORPHA:3226
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Intestinal mal...	ORPHA:436252
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Osteomyelitis, Weight loss, Skin rash, Arthritis, Inflammation of the large intestine, El...	ORPHA:324964
Sweet Syndrome	Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Increased circulating interleuki...	ORPHA:3243
Sarcoidosis	Pneumothorax, Bronchiectasis, Keratoconjunctivitis sicca, Pleural effusion, Increased T cell coun...	ORPHA:797
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Lichen Planopilaris	Hepatitis, Abnormal intestine morphology	ORPHA:525
Alstrom Syndrome	Tubulointerstitial nephritis, Hyperuricemia, Decreased response to growth hormone stimulation tes...	OMIM:203800
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Pustule, Rheumatoid arthritis	ORPHA:48377
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:178320
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H...	OMIM:277900
Zygomycosis	Brain abscess, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal...	ORPHA:73263
Multiple Myeloma	Anemia, Decreased circulating antibody level, Pleural effusion, Increased circulating IgA level, ...	ORPHA:29073
Congenital Tufting Enteropathy	Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor...	ORPHA:92050
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of ...	ORPHA:767
Multicentric Reticulohistiocytosis	Cachexia, Arthritis, Histiocytosis	ORPHA:139436
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Exocrine pancreatic insufficiency, Chronic ...	OMIM:269200
Kaposi Sarcoma	Abnormality of the liver, Weight loss, Abnormality of the gastrointestinal tract, Skin rash, Abno...	ORPHA:33276
Good Syndrome	Anemia, Bronchiectasis, Decreased circulating antibody level, Sinusitis, Dyspnea, Cough, Recurren...	ORPHA:169105
Isolated Sedoheptulokinase Deficiency	Anemia, Hepatitis, Steatorrhea, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver dis...	ORPHA:440713
Mccune-Albright Syndrome	Gastroesophageal reflux, Increased circulating prolactin concentration, Macroorchidism, Abnormal ...	ORPHA:562
Pseudomyxoma Peritonei	Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh...	ORPHA:26790
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Recurrent ear infections, Abnormal T cell subset distribution, Reduced natural killer cell count,...	ORPHA:221139
Bullous Pemphigoid	Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss	ORPHA:703
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Recurrent infections, D...	OMIM:620040
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Hepatitis, Skin rash, Recurrent infections, Recurrent respira...	ORPHA:1334
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Eczema, Thrombocytopenia, Arthritis, Chronic pulmonary obstruction, Neu...	ORPHA:906
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Primary Sjögren Syndrome	Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr...	ORPHA:289390
Undifferentiated Pleomorphic Sarcoma	Abnormality of the peritoneum, Weight loss	ORPHA:2023
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:66661
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Villous at...	OMIM:619377
Cryoglobulinemic Vasculitis	Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Gastrointestina...	ORPHA:91138
Thymoma	Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Decreased circulating ...	ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Gastroesophageal reflux, Intestinal perforation, Anemia, Primary te...	ORPHA:85450
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Iridocyclitis, Chro...	OMIM:240300
Zika Virus Disease	Conjunctivitis, Myelitis, Infectious encephalitis, Skin rash, Arthritis, Increased circulating Ig...	ORPHA:448237
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthritis, Hepatitis, ...	ORPHA:1855
Cronkhite-Canada Syndrome	Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis...	ORPHA:2930
Oculopharyngodistal Myopathy	High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyngeal swallow response...	ORPHA:98897
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Leukopenia, Skin rash, Nephritis, Increa...	ORPHA:2298
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia	ORPHA:199296
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Weight loss, Thyroiditis, Elevated hepatic transaminase, Eczema, S...	OMIM:212750
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Irid...	OMIM:181000
Follicular Lymphoma	Abnormality of the peritoneum, Meningitis, Splenomegaly, Weight loss	ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Hepatomegaly	ORPHA:86893
Rhabdoid Tumor	Anemia, Weight loss, Neoplasm of the liver, Hypercalcemia, Thrombocytopenia	ORPHA:69077
C3 Glomerulopathy	Decreased circulating complement C4 concentration, Paraproteinemia, Decreased circulating complem...	ORPHA:329918
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi...	OMIM:618549
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Bronchiectasis, Cachexia, Recurrent lower respirator...	ORPHA:60033
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Abnormality of iron homeostasis, Weight loss, Arthritis, Elevated transferrin saturati...	ORPHA:465508
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormality of the liver, Weight loss, Abnormality of the gastrointe...	ORPHA:85443
Wolman Disease	Anemia, Hepatic failure, Cachexia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal ...	ORPHA:75233
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Aicardi-Goutieres Syndrome 9	Anemia, Hepatic fibrosis, Hemolytic anemia, Weight loss, Recurrent urinary tract infections, Chil...	OMIM:619487
Tick-Borne Encephalitis	Leukopenia, Myelitis, Abnormality of serum cytokine level, Increased circulating IgM level, Leuko...	ORPHA:297
Riddle Syndrome	Decreased circulating total IgM, Weight loss, Arthritis, Recurrent sinusitis, Chronic sinusitis, ...	ORPHA:420741
Trichinellosis	Conjunctivitis, Skin rash, Increased circulating IgE level	ORPHA:863
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa...	ORPHA:42
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Post-vaccination meas...	ORPHA:83597
Rat-Bite Fever	Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Anemia, W...	ORPHA:31205
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,...	OMIM:613673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Cachexia, Glossitis, Hematochezia...	OMIM:175500
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Recurrent infections, Weight loss	ORPHA:704
Hodgkin Lymphoma	Splenomegaly, Weight loss, Hepatomegaly	ORPHA:98293
Incontinentia Pigmenti	Pulmonary arterial hypertension, Skin rash, Uveitis, Eosinophilia, Keratitis, Infectious encephal...	ORPHA:464
Proteasome-Associated Autoinflammatory Syndrome 1	Conjunctivitis, Increased circulating interleukin 6 concentration, Episcleritis, Erythema nodosum...	OMIM:256040
Immunodeficiency 47	Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c...	OMIM:300972
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Hepatic cysts, Weight loss, Elevated alkaline phosphatase of hepatic origi...	ORPHA:100085
Erythrokeratodermia Variabilis	Weight loss, Skin rash, Abnormal testis morphology	ORPHA:317
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Decreased circulating IgG2 level, Ac...	OMIM:208900
Incontinentia Pigmenti	Uveitis, Leukocytosis, Eosinophilia, Keratitis, Maculopapular exanthema	OMIM:308300
Desmoplastic Small Round Cell Tumor	Anemia, Ovarian neoplasm, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the per...	ORPHA:83469
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Gaucher Disease Type 1	Pulmonary arterial hypertension, Leukopenia, Abnormal pulmonary interstitial morphology, Anemia, ...	ORPHA:77259
Myasthenia Gravis	Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Dysphagia, Pu...	ORPHA:589
Classic Hodgkin Lymphoma	Weight loss, Skin rash, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly	ORPHA:391
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:70578
Hyper-Igd Syndrome	Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, Increased circulatin...	OMIM:260920
Hepatocellular Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Thrombocytopenia, Abnormal rectum morp...	ORPHA:88673
Castleman Disease	Anemia, Increased circulating interleukin 6 concentration, Weight loss, Abnormality of the gastro...	ORPHA:160
Bloom Syndrome	Acute myeloid leukemia, Rhinitis, Decreased circulating total IgM, Decreased circulating antibody...	ORPHA:125
Toxic Epidermal Necrolysis	Conjunctivitis, Intestinal perforation, Anemia, Recurrent respiratory infections, Weight loss, Ma...	ORPHA:537
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, Sp...	OMIM:612301
Cap Polyposis	Atrophic gastritis, Hematochezia, Colorectal polyposis, Weight loss	ORPHA:160148
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Leukocytosis, Thr...	OMIM:274000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo...	OMIM:233710
Holocarboxylase Synthetase Deficiency	Keratoconjunctivitis, Weight loss, Eczema, Perioral eczema, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Takayasu Arteritis	Anemia, Weight loss, Arthritis, Inflammatory abnormality of the eye, Gastrointestinal infarctions...	ORPHA:3287
Pyomyositis	Weight loss, Myositis, Recurrent cutaneous abscess formation, Recurrent infections, Leukocytosis,...	ORPHA:764
Polymyositis	Gastroesophageal reflux, Weight loss, Arthritis, Elevated circulating aldolase concentration, Ele...	ORPHA:732
Vici Syndrome	Decreased circulating IgG2 level, Recurrent infections, Recurrent respiratory infections, Decreas...	ORPHA:1493
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Whipple Disease	Anemia, Malabsorption, Arthritis, Cachexia, Uveitis, Pericarditis, Myositis, Gastrointestinal hem...	ORPHA:3452
Lysosomal Acid Lipase Deficiency	Cachexia, Elevated hepatic transaminase, Hepatosplenomegaly, Bone-marrow foam cells, Hypercholest...	ORPHA:275761
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperammonemia, Hep...	ORPHA:415
Bone Dysplasia, Lethal Holmgren Type	Anemia, Weight loss, Failure to thrive, Hepatomegaly, Recurrent respiratory infections	ORPHA:1842
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Lassa Fever	Conjunctivitis, Dyspnea, Increased circulating IgM level, Cough	ORPHA:99824
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Neutropenia, Recurrent bronchopulmonary infections, Respiratory distress, Nep...	OMIM:617303
Peripheral Primitive Neuroectodermal Tumor	Anemia, Increased circulating lactate dehydrogenase concentration, Weight loss, Neoplasm of the p...	ORPHA:370348
X-Linked Alport Syndrome-Diffuse Leiomyomatosis

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