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BS Shamsian,1 K
Norbakhsh,1 N Rezaei,2,3 A Safari,1
A Gharib,4 Z Pourpak,5 S Alavi,1
N Parvaneh,2 MT Arzanian1 |
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1Department of Pediatric
Hematology/Oncology, Mofi d Children Hospital, Shahid
Beheshti Medical University, Tehran, Iran
2Molecular Immunology Research Center; and Department of
Immunology, School of Medicine, Tehran
University of Medical Sciences, Tehran, Iran
3Research Center for Immunodefi ciencies, Pediatrics
Center of Excellence, Childrens Medical Center, Tehran
University of Medical Sciences, Tehran, Iran
4Department of Pathology, Mofi d Children Hospital,
Shahid Beheshti Medical University, Tehran, Iran
5Immunology, Asthma and Allergy Research Institute,
Tehran University of Medical Sciences, Tehran, Iran |
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Abstract |
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Griscelli syndrome
type 2 is a rare
autosomal recessive
primary
immunodeficiency
disease caused by a
mutation in the
RAB27A gene and
characterized by
oculocutaneous
hypopigmentation and
variable cellular
immunodeficiency.
We report the case
of a 6-month-old
infant with silvery
hair, eyelashes, and
eyebrows who was
referred to our
center because of
fever and
hepatosplenomegaly.
Bone marrow studies
indicated
hemophagocytosis,
whilst microscopic
examination of the
hair showed
irregular
agglomerations of
pigment in hair
shafts. Molecular
analysis revealed a
novel homozygous
mutation in exon 5,
namely, a
single-base
substitution
(g.42996 A>G)
leading to an amino
acid change (S115G)
and thus confirming
the diagnosis of
Griscelli syndrome
type 2.
Griscelli syndrome
could be more common
than thought,
especially in
regions with high
rates of
consanguinity. As
the prognosis of
disease is usually
poor, prompt
diagnosis and
appropriate
treatment are vital
to avoid
complications.
Key words:
Griscelli syndrome
type 2. Gene
mutation.
Hemophagocytic
lymphohistiocytosis.
Immunodeficiency.
RAB27A.
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