Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
Objective: To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes. Study design: The demographic, genetic, and immunologic features of 108 infants with SCID who were...
Gespeichert in:
Veröffentlicht in: | The Journal of pediatrics 1997-03, Vol.130 (3), p.378-387 |
---|---|
Hauptverfasser: | , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | Objective: To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes.
Study design: The demographic, genetic, and immunologic features of 108 infants with SCID who were treated consecutively at Duke University Medical Center were analyzed.
Results: Eighty-nine subjects were boys and 19 were girls; there were 84 white infants, 16 black infants, and 8 Hispanic infants. Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (γ
c )
, 16 had adenosine deaminase (ADA) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive mutations, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type. Deficiency of ADA caused the most profound lymphopenia; γ
c
or Jak3 deficiency resulted in the most B cells and fewest natural killer (NK) cells; NK cells and function were highest in autosomal recessive and unknown types of SCID.
Conclusions: Different SCID genotypes are associated with distinctive lymphocyte characteristics. The presence of NK function in ADA-deficient, autosomal recessive, and unknown type SCIDs, and low NK function in a majority of γ
c
and Jak3 SCIDs indicates that some molecular lesions affect T, B, and NK cells (γ
c
and Jak3), others primarily T cells (ADA deficiency), and others just T and B cells. (J Pediatr 1997;130:378-87) |
---|---|
ISSN: | 0022-3476 1097-6833 |
DOI: | 10.1016/S0022-3476(97)70199-9 |