X-Linked (Bruton) Agammaglobulinemia Differential Diagnoses

Updated: Mar 26, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Also consider the following:

  • Lymphoproliferative disorders
  • T-cell disorders
  • Transient hypogammaglobulinemia of infancy
  • Growth hormone deficiency
  • X-linked deficiency with hyper immunoglobulin M (IgM)

Transient myelodysplastic syndrome has been described in X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, with a novel BTK mutation. [26]

Persons with XLA may be at increased risk of multiple colorectal neoplasms. [27]

An autoimmunity phenotype is less common in patients with XLA than in those with different types of primary antibody deficiency. [28]

Kawasaki disease may uncommonly occur simultaneously. [28, 29]

Differential Diagnoses