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Cartilage‐hair hypoplasia associated with IgG2 deficiency
Author(s) -
KAWASAKI HIROHIDE,
KOHDERA URARA,
TANIUCHI SHOICHIRO,
KOBAYASHI YOHNOSUKE
Publication year - 1995
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1995.tb03409.x
Subject(s) - medicine , hypoplasia , immunodeficiency , dwarfism , cartilage , immunologic deficiency syndromes , immunity , pulmonary hypoplasia , immune system , cellular immunity , primary immunodeficiency , immunology , selective iga deficiency , immunocompetence , anatomy , antibody , biology , genetics , pregnancy , fetus , gene
We report on a 1 year old boy with cartilage‐hair hypoplasia (CHH). He suffered from recurrent upper respiratory infections and short‐limbed dwarfism. As with most patients with CHH, he had impaired cellular immunity as determined by lymphocyte reactivity. In addition, he had a selective IgG2 deficiency. This combination of immunodeficiencies has not previously been reported for patients with CHH. His recurrent upper respiratory infections were likely to be associated with cellular immunodeficiency and IgG2 deficiency.