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PubMed · 15475639

Griscelli syndrome: Rab 27a mutation.

S R Sheela·Manoj Latha·Susy J Injody
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Abstract

An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.

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Chediak-Higashi SyndromeCodon, NonsenseDiagnosis, DifferentialHumansImmunologic Deficiency SyndromesInfant, NewbornMaleMelanocytesPiebaldismPrognosisrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsCase ReportsJournal Article

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S R Sheela, Manoj Latha, Susy J Injody. 2004. Griscelli syndrome: Rab 27a mutation.. https://pubmed.ncbi.nlm.nih.gov/15475639/

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PubMed2006

Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature.

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.

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