Which clinical history findings are characteristic of X-linked immunodeficiency with hyper IgM syndrome (XHM)?

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

X-linked immunodeficiency with hyper IgM syndrome (XHM) is a part of the hyper-IgM syndromes that includes a group of disorders characterized by recurrent bacterial infections and low serologic levels of IgG, IgA, and IgE, with relatively elevated levels of IgM. XHM affects only boys and is the result of mutations in the gene that encodes the CD40 ligand (CD40L or CD154) located on chromosome X. Clinical manifestations of XHM are as follows:

  • Recurrent infections of the upper and lower respiratory tracts beginning during the first 2 years of life; susceptibility to infection from P jirovecii and Clostridium parvum, both opportunistic pathogens controlled by cellular immunity, may be explained by the nature of the defect underlying this disease, which involving T-cell CD40L

  • A high incidence of liver disease and sclerosing cholangitis (approximately 20% of patients in a series reported by Levy et al [17] ; others report 80% by age 20 y), as well as liver and gastrointestinal malignancies

  • Oral and rectal ulcers are common in patients with chronic neutropenia (approximately 50% of cases).

  • Autoimmune diseases such as arthritis, nephritis, and hematologic disorders have also been reported.


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