Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N. Zamani R, et al. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):178-190. doi: 10.15586/aei.v49i2.61. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641308 Review.
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vic …
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndro …
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition. ...
Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family mem …
Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy.
Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI. Trottestam H, et al. Pediatr Blood Cancer. 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790. Pediatr Blood Cancer. 2009. PMID: 18937330
BACKGROUND: Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chediak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. ...PROCEDURE: In the HLH-94/HLH-2004 treatment study registries, we …
BACKGROUND: Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chediak-Higashi (CHS …