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Case Report |
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Severe Congenital Neutropenia in 2
Siblings of Consanguineous Parents. The Role of HAX1
Deficiency |
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S Mamishi,1,2 SA
Esfahani,3 N Parvaneh,1,2 J
Diestelhorst,4 N Rezaei1,3 |
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1 Department of Pediatrics, Pediatrics
Center of Excellence, Children’s Medical Center, Tehran
University of Medical Sciences, Tehran, Iran
2 Infectious Disease Research Center, Tehran University
of Medical Sciences, Tehran, Iran
3 Growth and Development Research Center, Tehran
University of Medical Sciences, Tehran, Iran
4 Department of Pediatric Hematology and Oncology,
Hannover Medical School, Hannover, Germany |
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J Investig Allergol Clin Immunol
2009; Vol. 19(6): 500-503 |
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Abstract |
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Severe congenital
neutropenia (SCN) is
a rare primary
immunodeficiency
disease that is
characterized by
persistent severe
neutropenia and
severe early-onset
bacterial
infections. We
report the case of 2
siblings with SCN
who were the
children of
consanguineous
parents.
The HAX1 mutation
was identified in
both siblings. Both
patients suffered
from oral ulcers,
candidiasis,
respiratory tract
infections, and
diarrhea. A bone
marrow biopsy,
performed to
determinethe cause
of their persistent
severe neutropenia,
revealed myeloid
maturation arrest;
thus confirming the
diagnosis of SCN.
Granulocyte
colony-stimulating
factor and
prophylactic
antibiotics were
started. A molecular
study revealed a
homozygous W44X
mutation of the HAX1
gene in both cases.
HAX1 deficiency
should be considered
in any child with
severe infections
and neutropenia,
especially in
children of
consanguineous
parents. Early
diagnosis and
appropriate
treatment could
prevent
complications in
this group of
patients.
Key words:
Severe congenital
neutropenia. HAX1.
Mutation. Infection.
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