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Page 1
Chediak-Higashi syndrome.
Kumar P, Rao KS, Shashikala P, Chandrashekar HR, Banapurmath CR. Kumar P, et al. Indian J Pediatr. 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492. Indian J Pediatr. 2000. PMID: 10985003
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.
Mancini AJ, Chan LS, Paller AS. Mancini AJ, et al. J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7. J Am Acad Dermatol. 1998. PMID: 9486701 Review.
The syndrome can be differentiated from Chediak-Higashi syndrome by pathognomonic light and electron microscopic features in skin and hair, and absence of consistent granulocyte abnormalities, but similarly carries a poor prognosis without bone marrow transplantation. We d …
The syndrome can be differentiated from Chediak-Higashi syndrome by pathognomonic light and electron microscopic features in skin and hair, …
Partial albinism with immunodeficiency (Griscelli syndrome).
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C. Klein C, et al. J Pediatr. 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. J Pediatr. 1994. PMID: 7996360
One of the underlying immunologic defects may be a defective function of natural killer cells, predisposing the patient to virus-associated hemophagocytic syndrome or accelerated phases. The prognosis is very poor unless early bone marrow transplantation is carried out....
One of the underlying immunologic defects may be a defective function of natural killer cells, predisposing the patient to virus-associated …
Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India.
Roy A, Kar R, Basu D, Srivani S, Badhe BA. Roy A, et al. Indian J Pathol Microbiol. 2011 Jul-Sep;54(3):547-51. doi: 10.4103/0377-4929.85090. Indian J Pathol Microbiol. 2011. PMID: 21934218
Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. ...
Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. …
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A. Mohammed M, et al. Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472485
Whole exome sequencing identified homozygosity for a deleterious sequence variant of high impact in AP3D1, c.1978delG, predicting p.Ala660Argfs*54 (NM_001261826.3). We further demonstrated an abnormal storage pathway in the platelets. ...
Whole exome sequencing identified homozygosity for a deleterious sequence variant of high impact in AP3D1, c.1978delG, predicting p.A …
Griscelli syndrome: Rab 27a mutation.
Sheela SR, Latha M, Injody SJ. Sheela SR, et al. Indian Pediatr. 2004 Sep;41(9):944-7. Indian Pediatr. 2004. PMID: 15475639 Free article.
19 results