Association of HAX1 Deficiency with Neurological Disorder

 

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Abstract

Severe congenital neutropenia (SCN) is a rare, heterogeneous, primary immunodeficiency disorder characterized by early onset of severe bacterial infections. We here describe a case of SCN associating neutropenia and neurodevelopmental delay. The girl was well until the age of 9 months, when she suffered from an episode of convulsion. Subsequently, she developed several episodes of superficial abscesses, oral ulcers and otitis media. Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1. She also suffered from psychomotor retardation and recurrent seizures. This case illustrates that HAX1 deficiency may be associated with a neurological phenotype.

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Correspondence

N. RezaeiMD 

Immunology

Asthma and Allergy Research Institute

Children Medical Center

No. 62

Dr. Gharib St.

Keshavarz Blvd.

P.O. Box: 14185-863

Tehran 14194

Iran

Phone: +98/21/6693 58 55

Fax: +98/21/6642 89 95

Email: rezaei_nima@hbi.ir

Email: nima_rezaei@farabi.tums.ac.ir