Abstract
A male child presented with recurrent respiratory infections, otitis media, and oral ulceration and was found to be neutropenic. Investigations showed hypogammaglobulinaemia with normal serum IgM and a novel deletion in the gene for CD40 ligand on his X chromosome. Intravenous gammaglobulin did not lead to resolution of his neutropenia; G-CSF was also necessary.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Agammaglobulinemia / complications*
-
Agammaglobulinemia / genetics
-
Agammaglobulinemia / immunology
-
CD40 Antigens* / genetics
-
Gene Deletion
-
Humans
-
Immunoglobulin M / blood
-
Infant
-
Male
-
Neutropenia / etiology*
-
Neutropenia / genetics
-
Neutropenia / immunology
-
Opportunistic Infections / etiology
-
Opportunistic Infections / genetics
-
Opportunistic Infections / immunology
Substances
-
CD40 Antigens
-
Immunoglobulin M