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Hoyeraal-Hreidarsson syndrome

This syndrome is a severe form of dyskeratosis congenita with poor growth inside the womb, microcephaly (small head), and pancytopenia (low numbers of all blood cells).

This syndrome is a severe form of dyskeratosis congenita with X-linked inheritance, and individuals have poor growth inside the womb, microcephaly (small head), pancytopenia (low numbers of all blood cells), and especially decreased natural killer cells. The disease generally presents in early childhood and primarily affects males. Patients experience a progressive loss of cellular and humoral immunity and are thus susceptible to infections by virtually any pathogen. Accurate diagnosis of dyskeratosis congenita (DC) is critical to ensure proper clinical management because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.

Find Hoyeraal-Hreidarsson syndrome clinical trials

See if you qualify to participate in clinical trials evaluating new treatments and/or diagnostics for Hoyeraal-Hreidarsson syndrome.

Other primary cellular immunodeficiencies 

Some patients with less common cellular immunodeficiencies may have severe immunodeficiency with early onset and significant morbidity and mortality, while others have only mild problems. Patients with these types of deficiencies have some defect in their T cell (cellular) immune system, resulting in a different spectrum of infection problems than those individuals with typical antibody deficiency. These include deep-seated bacterial infections, viral and fungal infections, tuberculosis, and other mycobacterial infections. Cellular immunodeficiencies are usually more difficult to treat and may need cellular reconstitution via hematopoietic stem cell transplantation or, perhaps, gene therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice. Additionally, links to other resources and websites are shared for informational purposes only and should not be considered an endorsement by the Immune Deficiency Foundation.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA