65. Primary immunodeficiency Clinical trials / Disease details

Clinical trials : 500 /  Drugs : 614 - (DrugBank : 119) / Drug target genes : 92 - Drug target pathways : 217

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Other names-
Disease group Hematologic diseases
Related info (in Japanese)
Specific pediatric chronic diseases, Japan (in Japanese)10-1-8. major histocompatibility complex class I deficiency
10-1-9. major histocompatibility complex class II deficiency
10-1-10. Other combined immunodeficiencies
10-3-30. Other predominantly antibody deficiencies
10-4-34. Other diseases of immune dysregulation
10-5-37. Other congenital defects of neutrophil function
10-5-43. Other congenital defects of phagocyte function
10-6-48. Other defects in innate immunity
10-7-51. inherited deficiency of complement system
10-10-55. Phenocopies of primary immunodeficiency
SubtypesNo.NameSpecific pediatric chronic diseases, Japan (in Japanese)
65-1.X-linked severe combined immunodeficiency;X-SCID;10-1-1. X-linked severe combined immunodeficiency; X-SCID
65-2.Reticular dysgenesis;10-1-2. reticular dysgenesis
65-3.Adenosine deaminase deficiency;10-1-3. adenosine deaminase deficiency; ADA deficiency
65-4.Omenn syndrome;10-1-4. Omenn syndrome
65-5.Purine nucleoside phosphorylase deficiency;10-1-5. purine nucleoside phosphorylase deficiency
65-6.CD8 deficiency;10-1-6. CD8 deficiency
65-7.ZAP-70 deficiency;10-1-7. ZAP-70 deficiency
65-8.MHC class I deficiency;10-1-8. major histocompatibility complex class I deficiency
65-9.MHC class II deficiency;10-1-9. major histocompatibility complex class II deficiency
65-10.Combined immunodeficiency;
65-11.Wiskott-Aldrich syndrome;WAS;10-2-11. Wiskott-Aldrich syndrome
65-12.Ataxia telangiectasia;10-2-12. ataxia telangiectasia
65-13.Nijmegen breakage syndrome;10-2-13. Nijmegen breakage syndrome
65-14.Bloom syndrome;10-2-14. Bloom syndrome
65-15.Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;10-2-15. ICF syndrome
65-16.PMS2 deficiency;10-2-16. PMS2 deficiency
65-17.Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;10-2-17. RIDDLE syndrome
65-18.Schimke syndrome;10-2-18. Schimke syndrome
65-19.Netherton syndrome;14-2-5. Netherton syndrome
65-20.Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;10-2-19. thymus hypoplasia; DiGeorge syndrome; 22q11.2 deletion syndrome
65-21.Hyper-IgE syndrome;10-2-20. hyper-IgE syndrome
65-22.Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;10-2-21. hepatic venoocclusive immunodeficiency
65-23.Dyskeratosis congenita;10-2-22. dyskeratosis congenita
65-24.X-linked agammaglobulinaemia;10-3-23. X-linked agammaglobulinaemia; XLA
65-25.Common variable immunodeficiency;10-3-24. common variable immunodeficiency; CVID
65-26.Hyper-IgM syndrome;10-3-25. Hyper-IgM syndrome
65-27.Isolated IgG subclass deficiency;10-3-26. Isolated IgG subclass deficiency
65-28.Selective IgA deficiency;10-3-27. Selective IgA deficiency
65-29.Specific antibody production deficiency;10-3-28. Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells
65-30.Infant transient hypogammaglobulinemia;10-3-29. Transient hypogammaglobulinaemia of infancy with normal numbers of B cells
65-31.Chédiak-Higashi syndrome;Chediak-Higashi syndrome;10-4-31. Chédiak-Higashi syndrome; CHS
65-32.X-linked lymphoproliferative syndrome;10-4-32. X-linked lymphoproliferative syndrome; XLP
65-33.SAP deficiency;SH2D1A/SLAM-associated protein deficiency;
65-34.XIAP deficiency;X-linked inhibitor of apoptosis deficiency;
65-35.Autoimmune lymphoproliferative syndrome;ALPS;10-4-33. autoimmune lymphoproliferative syndrome; ALPS
65-36.Familial hemophagocytic syndrome;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;
65-37.Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;
65-38.Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;
65-39.CD25 deficiency;
65-40.ITCH deficiency;
65-41.Primary phagocytic dysfunction;
65-42.Severe congenital neutropenia;10-5-35. severe congenital neutropenia
65-43.Cyclic neutropenia;10-5-36. cyclic neutropenia
65-44.Hermanskyi-Pudlak syndrome type 2;Hermanskyi-Pudlak syndrome 2;
65-45.Griscelli syndrome type 2;Griscelli syndrome 2;
65-46.p14 deficiency;
65-47.Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;10-6-48. Other defects in innate immunity
65-48.Glycogen storage disease type Ib;
65-49.Leukocyte adhesion deficiency;10-5-38. leukocyte adhesion deficiency; LAD
65-50.Shwachman-Diamond syndrome;10-5-39. Shwachman-Diamond syndrome; SDS
65-51.Chronic granulomatous disease;10-5-40. Chronic granulomatous disease; CGD
65-52.Myeloperoxidase deficiency;10-5-41. myeloperoxidase deficiency
65-53.Mendelian susceptibility to mycobacterial disease;MSMD;10-5-42. Mendelian susceptibility to mycobacterial disease; MSMD
65-54.Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;10-6-44. Anhidrotic ectodermal dysplasia with immunodeficiency; EDA-ID
65-55.Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;10-6-45. IRAK4 deficiency
65-56.MyD88 deficiency;10-6-46. MyD88 deficiency
65-57.Chronic mucocutaneous candidiasis;10-6-47. chronic mucocutaneous candidiasis; CMC
65-58.Epidermodysplasia verruciformis;
65-59.Herpes simplex encephalitis;10-6-48. Other defects in innate immunity
65-60.Caspase recruitment domain family member 9 deficiency;CARD9 deficiency;10-6-48. Other defects in innate immunity
65-61.Trypanosomiasis;
65-62.Congenital complement deficiency;10-7-49. inherited deficiency of complement system
65-63.C1q deficiency;
65-64.C1r deficiency;
65-65.C1s deficiency;
65-66.C2 deficiency;
65-67.C3 deficiency;
65-68.C4 deficiency;
65-69.C5 deficiency;
65-70.C6 deficiency;
65-71.C7 deficiency;
65-72.C8 deficiency;
65-73.C9 deficiency;
65-74.Factor D deficiency;
65-75.Properdin deficiency;
65-76.Factor I deficiency;
65-77.Factor H deficiency;
65-78.MASP1 deficiency;
65-79.3MC syndrome;
65-80.Mannose-binding protein-associated serine protease 2 deficiency;MASP2 deficiency;
65-81.Immunodeficiency associated with FCN3 mutation;FCN3;
65-82.Hereditary angioedema type 1;Hereditary angioedema type I;C1 inhibitor deficiency type 1;C1 inhibitor deficiency type I;10-7-50. hereditary angioedema; C1 inhibitor deficiency
65-83.Hereditary angioedema type 2;Hereditary angioedema type II;C1 inhibitor deficiency type 2;C1 inhibitor deficiency type II;10-7-50. hereditary angioedema; C1 inhibitor deficiency
65-84.Hereditary angioedema type 3;Hereditary angioedema type III;C1 inhibitor deficiency type 3;C1 inhibitor deficiency type III;10-7-50. hereditary angioedema; C1 inhibitor deficiency