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Clinical and genetic analysis of patients with X‐linked hyper‐ IgM syndrome
Author(s) -
VargasHernández A,
BerrónRuiz L,
StainesBoone T,
ZarateHernández MdC,
CórdovaCalderón WO,
EspinosaRosales FJ,
SantosArgumedo L
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01953.x
Subject(s) - humanities , medicine , philosophy
To the Editor : Hyper-immunoglobulin M (IgM) syndromes are characterized by the presence of recurrent infections, low levels of IgG and IgA, and normal to high levels of IgM. The X-linked hyper-IgM (X-HIGM) syndrome is the most frequently observed subtype of hyperIgM syndromes (65–70%) and results from defects in the CD40L gene, which encodes for the CD40 ligand (CD154) (1–3). In this study, a total of six patients from five unrelated families were included; only the parents of patient 5 were consanguineous cousins. The median age at the time of diagnosis was 1.8 years (range, 0.6–2.6 years). The six patients included in this study showed typical characteristics of X-HIGM (Table 1).