DISEASE: T+B+Severe combined immunodeficiencies (SCIDs)

Entry

H01244                      Disease

Name

T+B+Severe combined immunodeficiencies (SCIDs)

Supergrp

Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

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

PMID:16276422

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

PMID:19243569

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

PMID:16211094

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

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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