How is immunodeficiency treated in cartilage-hair hypoplasia (CHH)?

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Answer

The treatment of the immunodeficiency depends on whether an isolated T-cell defect, isolated B-cell defect, or a combined T-cell and B-cell immunodeficiency is present. Some patients with cartilage-hair hypoplasia have only a limited susceptibility to infections, thus need no specific treatment.

Patients with a severe T-cell immunodeficiency with or without concomitant B-cell immunodeficiency are given the same treatment as patients with severe combined immunodeficiency (SCID).

Thus, T-cell immune reconstitution using bone marrow transplantation (BMT) is performed. BMT corrects the immunodeficiency but not the skeletal abnormalities. [37, 38] BMT can prevent lymphoma. Bordon et al reported on the outcome of 16 patients with cartilage hair-hypoplasia who received BMT. [39] Thirteen patients were transplanted in early childhood (~2.5 y) and 3 patients were transplanted at adolescent age. Ten patients, 62.5%, were long-term survivors; T-cell numbers and function were normal. Kavadas et al reported an additional 4 patients with cartilage hair-hypoplasia who had severe T-cell immunodeficiency successfully transplanted with matched unrelated donor stem cells during infancy. [15]

Individuals with an isolated T-cell immunodeficiency have an increased susceptibility to infections, and varicella is the most common, severe, life-threatening infection. Acyclovir is recommended in the treatment of varicella infections. In patients exposed to varicella, prophylaxis with varicella-zoster immune globulin (VZIG), acyclovir, or both can be administered. In the United States, VZIG was discontinued by the manufacturer. An investigational product (VariZIG) is currently available via investigational new drug protocol (contact FFF Enterprises at 800-843-7477). However, prophylaxis with acyclovir in other patients with T-cell impairment who are exposed to varicella may not prevent varicella infection.

The measles mumps rubella (MMR) vaccine may be given in the second year of life in patients with cartilage-hair hypoplasia without severe combined immunodeficiency. Rotavirus vaccine, a live-viral vaccine given in the first year of life, should be avoided.

An attenuated varicella vaccine has been developed as a routine part of childhood immunizations. Some investigators have recommended this vaccine in patients with near-normal T-cell function and normal B-cell function. In this situation, the varicella vaccine may have some protective role in patients with cartilage-hair hypoplasia. However, because it is a live vaccine, it may result in vaccine-related varicella infection. Guidelines for the administration of the vaccine have been established by the Centers for Disease Control and Prevention. [40]

In patients with cartilage-hair hypoplasia with antibody immunodeficiency and recurrent bacterial infections, antibody replacement therapy in the form of intravenous immunoglobulin (IVIG) or, alternatively, subcutaneous gammaglobulin (SCIG), therapy is indicated


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