Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.
J Clin Immunol
; 28(5): 588-92, 2008 Sep.
Article
em En
| MEDLINE
| ID: mdl-18592361
ABSTRACT
INTRODUCTION:
A 2.5-month old boy presented with recurrent wheezing, protracted diarrhea, erythrodermia, and failure to thrive. METHODS ANDRESULTS:
Laboratory analysis showed lymphocytopenia with severely reduced T-cell numbers but normal numbers of B and NK cells. Serum IgE was increased and the patient had eosinophilia. These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. Comparison of the patient's immunoglobulin heavy chain rearrangements to those of age-matched controls, cord blood, and adults revealed an almost total lack of nonproductive rearrangements (2.7% versus 14.7%, 27.6%, and 19.8% in the controls, respectively) indicating failure to correct out-of-frame rearrangements by a second rearrangement on the homologous chromosome 14.CONCLUSION:
We hypothesize that the R841W mutation causes a malfunction of RAG1 that has differential outcome on V(D)J recombination in B and T cells, as the patient had normal B cell numbers but suffered severe alpha-beta T-cell immunodeficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfócitos B
/
Rearranjo Gênico do Linfócito B
/
Imunodeficiência Combinada Severa
/
Receptores de Antígenos de Linfócitos T alfa-beta
/
Proteínas de Homeodomínio
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Dinamarca