Open AccessHyper-IgM syndrome in a boy with recurrent pneumonia and hepatosplenomegaly
Author(s) -
Dragana Janić,
Nedeljko Radlović,
Lidija Dokmanović,
Nada Krstovski,
Zoran Leković,
Srdja Janković,
Dragana Ristić
Publication year - 2009
Publication title -
srpski arhiv za celokupno lekarstvo
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 17
eISSN - 2406-0895
pISSN - 0370-8179
DOI - 10.2298/sarh0902081j
Subject(s) - hepatosplenomegaly , medicine , immunology , failure to thrive , primary immunodeficiency , antibody , immunodeficiency , immunoglobulin m , immune system , immunoglobulin g , disease
We present a boy diagnosed at age 14 years with hyper-immunoglobulin (Ig) M syndrome, a congenital immunodeficiency characterized by reduced plasma concentrations of IgA, IgE and IgG, with normal or elevated concentrations of IgM. This syndrome is caused by a defect of CD40 ligand (CD40L) on T-helper lymphocytes, impeding the "second signal" during activation of B lymphocytes and interactions of T cells with dendritic cells and macrophages, resulting in the absence of secondary immune response (class switching, affinity maturation, immune memory), as well as responses to T-dependent antigens, with an impairment of cellular immunity.