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Disorders of the Immune System

Disease Subtype(s) HCT Disease Inserts Required Cellular Therapy Disease Inserts Required
Severe Combined Immunodeficiencies
  • SCID, T- B+ NK-, JAK3 mutation (2411)
  • SCID, T- B+ NK-, IL2RG mutations, X-linked SCID (2412)
  • SCID, T- B- NK-, Adenosine deaminase (ADA) deficiency (401)
  • SCID, T- B+ NK+, ILR alpha deficiency (403)
  • SCID, T- B- NK-, reticular dysgenesis (405)
  • SCID, T- B- NK+, RAG 1/2 deficiency (2413)
  • SCID, T- B- NK+, DCLRE1C (Artemis) deficiency (2414)
  • SCID, T- B- NK-, NOS (2415)
  • SCID, not otherwise specified (410)
  • Other SCID (with known genetic mutation) (419)
Combined Immunodeficiencies
  • CD40 ligand deficiency (464)
  • DOCK8 Deficiency (2416)
  • MHC class II deficiency (Bare lymphocyte syndrome) (406)
  • Omenn syndrome (404)
  • ZAP-70 deficiency (2417)
Combined Immunodeficiencies with Associated or Syndromic Features
  • Ataxia telangiectasia (451)
  • Cartilage-hair hypoplasia (462)
  • DiGeorge anomaly (454)
  • NEMO deficiency syndrome (2418)
 Forms 2031 & 2131 No disease inserts required
  • Wiskott-Aldrich syndrome (453)
 Forms 2033 & 2133
Predominately Antibody Deficiencies
  • Common variable immunodeficiency (457)
  • Activated PI3 Kinase Delta deficiency syndrome (APDS1 or PIK3CD) (2419)
 Forms 2031 & 2131
Diseases of Immune Dysregulation, Hemophagocytic Lymphohistiocytosis
  • Chediak-Higashi syndrome (456)
  • Griscelli syndrome type 2 (465)
  • Hermansky-Pudlak syndrome type 2 (466)
  • Other pigmentary dilution disorder (469)
 Forms 2056 & 2156
Diseases of Immune Dysregulation, EBV Susceptibility
  • SAP deficiency (XIAP-1) (458)
  • XIAP-2 deficiency (2420)
  • ITK deficiency (2421)
 Forms 2034 & 2134
Diseases of Immune Dysregulation, Syndromes with Autoimmunity and Others, NOS
  • Autoimmune lymphoproliferative syndrome (ALPS) (2422)
  • CTLA4 deficiency (2423)
  • IPEX, immune dysregulation polyendocrinopathy, enteropathy X-linked (FOXP3 deficiency) (2424)
  • LRBA Deficiency (2425)
  • STAT3 gain of function (2426)
 Forms 2031 & 2131
Congenital Defects of Phagocyte
  • Chronic granulomatous disease (455)
 Forms 2055 & 2155
  • GATA2 deficiency (2427)
  • Leukocyte adhesion deficiencies (459)Neutrophil actin deficiency (461)
Other Immunodeficiencies
  • HIV infection (452)
  • STAT1 gain of function (2428)
  • Other immunodeficiencies (479)
  • Immune deficiency, not otherwise specified (400)
 Forms 2031 & 2131
Last modified: May 29, 2024