Association of HAX1 deficiency with neurological disorder.
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.
Rezaei
N
N
Immunology, Asthma and Allergy Research Institute, Medical Sciences, University of Tehran, Tehran, Iran. rezaei_nima@hbi.ir
Chavoshzadeh
Z
Z
R Alaei
O
O
Sandrock
I
I
Klein
C
C
D048868:Adaptor Proteins, Signal Transducing; D001424:Bacterial Infections / Q000175:diagnosis / Q000235:genetics; D020029:Base Pairing / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009503:Neutropenia / Q000175:diagnosis / Q000235:genetics*; D009894:Opportunistic Infections / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012008:Recurrence
D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; C104759:HAX1 protein, human; D011506:Proteins