Which clinical history findings are characteristic of RAG1 and RAG2 deficiency?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

In patients deficient in the RAG proteins 1 and 2, the lymphocytes cannot rearrange the antigen receptors, thus leading to B- and T-lymphocyte deficiency. Phenotypically, the numbers of B and T cells are decreased, whereas the number of NK cells is normal.

Clinically, these patients present with increased susceptibility to infection with encapsulated and intracellular bacteria, viruses, and fungi. On laboratory studies, this syndrome is characterized by high serum IgE levels, decreased levels of the other immunoglobulins, and hypereosinophilia.

RAG1 deficiency is observed in patients with cartilage-hair hypoplasia (CHH) and is characterized by the following:

  • Short hands
  • Metaphysial chondroplasia
  • Hyperextensibility of the distal joints of hands and feet
  • Fine, light hair

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