Premium
Hyper‐IgM immunodeficiency with disseminated cryptococcosis
Author(s) -
Iseki M,
Anzo M,
Yamashita N,
Matsuo N
Publication year - 1994
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1994.tb13140.x
Subject(s) - immunodeficiency , medicine , nonsense mutation , immunology , cryptococcosis , cd40 , immunopathology , virology , immunodeficiency syndrome , mutation , immune system , gene , biology , missense mutation , genetics , cytotoxic t cell , in vitro
We describe two siblings with X‐linked hyper‐IgM immunodeficiency. One patient developed disseminated cryptococcosis. Co‐culture of this patient's T cells with normal B cells suppressed IgC and IgA production. The CD40 ligand gene of one patient was examined and contained a nonsense mutation at nucleotide 475. CD40 ligand is a membrane protein which is expressed on activated T cells and induces B‐cell proliferation. These results suggest that there is a defect in T‐ and B‐cell interactions in this immunodeficiency syndrome. It is also possible that patients with this syndrome are predisposed to cryptococcal infections.