- Agammaglobulinemia 7, Autosomal Recessive
- Agammaglobulinemia, Autosomal Recessive, Due To PIK3R1 Defect
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- Agammaglobulinemia, X-Linked
- Agammaglobulinemia, X-Linked, Type 1
- Bruton-Type Agammaglobulinemia
- Immunodeficiency 1
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- Autoinflammation, Antibody Deficiency, And Immune Dysregulation, PLCG2-Associated
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- Combined Immunodeficiency, X-Linked
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- Diarrhea 5, With Tufting Enteropathy, Congenital
- Enteropathy, Congenital Tufting
- Intestinal Epithelial Cell Dysplasia
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- Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
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- Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
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- Glycogen Storage Disease Ib
- Glucose-6-Phosphate Transport Defect
- GSD1b
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- Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
- CGD Due To Deficiency Of The Alpha Subunit Of Cytochrome B
- CGD, Autosomal Recessive Cytochrome B-Negative
- CYBA Deficiency
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- Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
- CGD, Autosomal Recessive Cytochrome B-Positive, Type I
- Granulomatous Disease, Chronic, Due To NCF1 Deficiency
- NCF1, Deficiency Of
- Neutrophil Cytosol Factor 1, Deficiency Of
- p47-PHOX, Deficiency Of
- SOC2, Deficiency Of
- Soluble Oxidase Component II, Deficiency Of
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- Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
- CGD, Autosomal Recessive Cytochrome B-Positive, Type II
- Granulomatous Disease, Chronic, Due To NCF2 Deficiency
- NCF2, Deficiency Of
- Neutrophil Cytosol Factor 2, Deficiency Of
- p67-PHOX, Deficiency Of
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- Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type III
- CGD, Autosomal Recessive Cytochrome B-Positive, TYPE III
- Granulomatous Disease, Chronic, Due To NCF4 Deficiency
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- Granulomatous Disease, Chronic, X-Linked
- Chronic Granulomatous Disease, X-Linked
- Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked
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- Hemophagocytic Lymphohistiocytosis, Familial, 5
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- Hermansky-Pudlak Syndrome 1
- Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
| - HPS1
- Delta Storage Pool Disease
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- Hermansky-Pudlak Syndrome 4
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- Hermansky-Pudlak Syndrome 6
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- Hirschsprung Disease, Susceptibility To, 1
- Aganglionic Megacolon
- Hirschsprung Disease
- Hirschsprung Disease 1
- Megacolon, Aganglionic
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- Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
- HIES, Autosomal Recessive
- Hyper-IgE Syndrome, Autosomal Recessive
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- Immunodeficiency 17
- CD3-Gamma Deficiency
- Immunodeficiency 17, CD3 gamma deficient
- SCID-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, NK Cell-Positive
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- Immunodeficiency With Hyper-IgM, Type 1
- Hyper-IgM Immunodeficiency, X-Linked
- Hyper-IgM Syndrome
- Hyper-IgM Syndrome 1
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- Immunodeficiency With Hyper-IgM, Type 2
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- Immunodeficiency, Common Variable, 1
- Antibody Deficiency Due To ICOS Defect
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- Immunodeficiency, Common Variable, 8, With Autoimmunity
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- Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
- Autoimmunity-Immunodeficiency Syndrome, X-Linked
- Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
- Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
- Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
- Iddm-Secretory Diarrhea Syndrome
- Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly
- Islets Of Langerhans, Absence Of, Included
- Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
- X-Linked Autoimmunity-Allergic Dysregulation Syndrome
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- Inflammatory Bowel Disease 25, Autosomal Recessive
- Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
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- Inflammatory Bowel Disease 28, Autosomal Recessive
- Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
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- Inflammatory Skin And Bowel Disease, Neonatal, 1
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- Leukocyte Adhesion Deficiency, Type I
- LFA1 Immunodeficiency
- Lymphocyte Function-Associated Antigen 1 Immunodeficiency
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- Lymphoproliferative Syndrome, X-Linked, 1
- Duncan Disease
- Ebv Susceptibility
- Epstein-Barr VIrus Infection, Familial Fatal
- Immunodeficiency 5
- Immunodeficiency, X-Linked Progressive Combined Variable
- Infectious Mononucleosis, Susceptibility To
- Lymphoproliferative Disease, X-Linked
- Lymphoproliferative Syndrome, X-Linked
- Lyp
- Purtilo Syndrome
- Xlp
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- Lymphoproliferative Syndrome, X-Linked, 2
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- Omenn Syndrome
- Reticuloendotheliosis, Familial, With Eosinophilia
- Severe Combined Immunodeficiency With Hypereosinophilia
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- Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
- Athabaskan Severe Combined Immunodeficiency, Included
- Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation
- Severe Combined Immunodeficiency, Athabaskan-Type, Included
- Severe Combined Immunodeficiency, Partial, Included
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- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Negative, Due To Adenosine Deaminase Deficiency
- SCID Due To ADA Deficiency
- SCID Due To ADA Deficiency, Early-Onset
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- Severe Combined Immunodeficiency, X-Linked
- Immunodeficiency 4
- Scid, X-Linked
- Scidx
- Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
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- Trichohepatoenteric Syndrome 1
- Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa
- Diarrhea, Syndromic
- THE Syndrome
| - THES1
- Diarrhea, Fatal Infantile, With Trichorrhexis NODOSA
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- Trichohepatoenteric Syndrome 2
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- Wiskott-Aldrich Syndrome
- Aldrich Syndrome
- Eczema-Thrombocytopenia-Immunodeficiency Syndrome
- Immunodeficiency 2
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