Which genetic B-cell disorders cause hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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Primary or congenital B-cell disorders

  • X-linked agammaglobulinemia (XLA, Bruton agammaglobulinemia)

    • Mutations in the Bruton tyrosine kinase (BTK) gene and protein have been implicated in this entity. [1, 5]  

  • Autosomal recessive agammaglobulinemia (ARA)

    • Generally, the only differences between ARA and XLA, other than occurrence of the former in females, are the pattern of inheritance and the genes implicated. The clinical presentation, lab abnormalities, age at onset, and treatment of ARA are identical to those of XLA.

    • The implicated molecules or genes include IgM heavy chain, Ig alpha, surrogate light chain, B cell linker protein (BLNK), and leucine-rich repeat – containing 8 (LRRC8) in different patients.

  • Hyper-IgM syndromes (including deficiencies of CD40 ligand (CD154), activation-induced cytidine deaminase [AID], and uracil-nucleoside-glycosylase [UNG]): This is a heterogeneous group of disorders in which normal or elevated IgM levels are found along with low levels of IgA, IgG, and, sometimes, IgE. One X-linked form of hyper IgM is associated with CD40 ligand (CD154) defects and may have impaired T-cell function and associated opportunistic infections. [2]

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