KEGG   DISEASE: T+B+Severe combined immunodeficiencies (SCIDs)
Entry
H01244                      Disease                                

Name
T+B+Severe combined immunodeficiencies (SCIDs)
Description
Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype consists of severe, disseminated cytomegalovirus (CMV) infection and autoimmune blood cell manifestations.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01244  T+B+Severe combined immunodeficiencies (SCIDs)
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01244  T+B+Severe combined immunodeficiencies (SCIDs)
Gene
RAG-1 [HSA:5896] [KO:K10628]
Other DBs
ICD-11: 4A01.10
ICD-10: D81
MeSH: C563311
OMIM: 609889
Reference
  Authors
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F
  Title
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
  Journal
J Clin Invest 115:3291-9 (2005)
DOI:10.1172/JCI25178
Reference
  Authors
Pasic S, Djuricic S, Ristic G, Slavkovic B
  Title
Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.
  Journal
Acta Paediatr 98:1062-4 (2009)
DOI:10.1111/j.1651-2227.2009.01250.x
Reference
  Authors
Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P
  Title
A variant of SCID with specific immune responses and predominance of gamma delta T cells.
  Journal
J Clin Invest 115:3140-8 (2005)
DOI:10.1172/JCI25221
LinkDB

» Japanese version

DBGET integrated database retrieval system