X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency

TLDR

We conducted clinical, immunologic, and endocrinologic studies on a family with two brothers and two maternal uncles presenting with hypogammaglobulinemia and isolated growth hormone deficiency. The X‑linked recessive disorder manifested as recurrent sinopulmonary infections, short stature with delayed bone age and puberty, absent specific antibody production, impaired in‑vitro immunoglobulin synthesis, B‑cell lymphopenia in most patients, and markedly reduced growth hormone responses to insulin, arginine, and levodopa, distinguishing it from known X‑linked immune disorders. N Engl J Med 1980; 302:1429–34.

Abstract

We undertook clinical, immunologic, and endocrinologic studies of a family in which two brothers and their two maternal uncles had a similar disorder characterized by hypogammaglobulinemia and isolated growth hormone deficiency. Recurrent sinopulmonary infections were a prominent feature in two patients. All patients had short stature and retarded bone age during childhood, and the adults had delayed onset of puberty. The immunodeficiency was characterized by absent specific antibody production in vivo and impaired immunoglobulin production in vitro. Three of the four patients lacked circulating B lymphocytes, even though tonsils were present in those patients. All patients had deficient growth hormone responses to insulin and arginine or levodopa. These patients have an X-linked recessive disorder, but their immunodeficiency differs from the X-linked immune disorders in the World Health Organization classification; their X-linked pattern of growth hormone deficiency, without other endocrine abnormality, is also unique. (N Engl J Med. 1980; 302:1429–34.)