Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type

J Clin Immunol. 2011 Oct;31(5):778-83. doi: 10.1007/s10875-011-9564-0. Epub 2011 Jul 6.

Abstract

Severe combined immunodeficiencies (SCID) are a heterogeneous group of genetic disorders characterized by a blockade or impairment of both cellular and humoral immunity. Several epidemiological studies in different geographic areas have shown that the most common type of SCID affecting almost half of these patients is the X-linked common γ-chain (γ(c)) deficiency. The objective of the study was to document the incidence and types of SCID in our area. We conducted a retrospective analysis of patients who were diagnosed with SCID in the major immunology center in Greece for a 20-year period. During the study period, 30 children from 27 unrelated families with final diagnosis of SCID were identified. The incidence of SCID in Greece is estimated at 1.7 cases per 100,000 live births. Out of 30 children, 19 were boys (63.3%) and 26 (86.7%) had Greek maternal origin. Lymphocyte immunophenotypes that were identified were T(-)B(-)NK(+) in 12 (40%) children, T(-)B(+)NK(-) in six (20%), T(-)B(+)NK(+) in three (10%), T(-)B(-)NK(-) in two (6.7%) and T(+)B(+/-)NK(+) in seven (23.4%) (among them, four [13.4%] females with Omenn's syndrome). Molecular diagnosis was available for 12 children: γ(c) (2) with non Greek maternal origin, Jak3 (2), Rag1 (2), Artemis (3), ADA deficiency (2), PNP deficiency (1). Out of the 26 children of Greek maternal origin diagnosed with SCID representing 23 distinct families, only two (8.7%) had lymphocyte immunophenotype compatible with γ(c)-chain gene mutation (no molecular testing or enough DNA was available for them at the time of diagnosis). Findings of the present study suggest that, for unknown reasons, mutations of the γ(c) chain of several cytokine receptors have a rare occurrence in our area.

MeSH terms

  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Demography
  • Family
  • Female
  • Genetics, Population
  • Greece
  • Humans
  • Immunophenotyping
  • Incidence
  • Infant
  • Infant, Newborn
  • Interleukin Receptor Common gamma Subunit / genetics
  • Interleukin Receptor Common gamma Subunit / metabolism*
  • Male
  • Mutation / genetics
  • Retrospective Studies
  • X-Linked Combined Immunodeficiency Diseases / diagnosis
  • X-Linked Combined Immunodeficiency Diseases / epidemiology*
  • X-Linked Combined Immunodeficiency Diseases / genetics*
  • X-Linked Combined Immunodeficiency Diseases / immunology

Substances

  • Interleukin Receptor Common gamma Subunit