X-linked hypogammaglobulinemia with growth hormone deficiency

The clinical syndrome of X-linked hypoglammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) is characterized by reduced serum of Ig and normal cell-mediated immunity. Linkage analysis demonstrated the most likely location of the gene (or genes) to be the midportion of Xq between DXS3 and DXS94 that includes the gene for XLA.

Alternative names

Agammaglobulinemia and isolated growth hormone deficiency, X-linked

Fleisher syndrome

Isolated growth hormone deficiency, type III

IGHD III

Growth hormone deficiency with hypogammaglobulinemia

Classification

  • Deficiencies predominantly affecting antibody production
    • Agammaglobulinemia

Inheritance

X-linked

OMIM

#307200 Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked

Cross references

Phenotypically related immunodeficiencies

IDR factfile for X-linked agammaglobulinemia

Incidence

Incidence is not known.