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Comel-Netherton syndrome

Related gene: SPINK5 

Inheritance pattern: Autosomal recessive

This is a very rare, hyper IgE disorder where patients have normal T cell numbers but reduced numbers of B cells. Patients exhibit increased IgE and IgA levels with variable specific antibody function. Newborns exhibit ichthyosis (scaly skin), bamboo-type hair (thin, tubular, and fragile), an increased incidence of bacterial infections, and growth failure. If antibody deficiency can be confirmed by vaccine challenge, immunoglobulin replacement could be tried.

In the neonatal period, 20% of the babies suffer from dehydration, electrolyte imbalances, perturbed thermoregulation, failure to thrive, and recurrent infections, which may result in early death. The hallmark of C-NS is trichorrhexis invaginata (bamboo hair), but other abnormalities, including pili torti (twisted hair) and trichorrhexis nodosa (hair of varying diameter), have been observed. Markedly elevated IgE levels, allergic reactions to food and common antigens, malnutrition, and increased susceptibility to skin, respiratory tract, or systemic infections are also characteristic.

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Hyper IgE syndromes

Comel-Netherton syndrome is a very rare type of hyper IgE 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.

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