X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update
- PMID: 17917049
- DOI: 10.1007/s12026-007-0052-9
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update
Abstract
X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLH-GHD, OMIM # 307200) is a primary immunodeficiency disorder characterized by pan-hypogammaglobulinemia and isolated growth hormone deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory and genetic features of the disease as they have unfolded over the past quarter century since its description.
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