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A Rare Case Report: ICOS and WIPF1 Mutation Together in A Patient.

Authors :
ARIK, Elif
KESKIN, Ozlem
CESUR, Mahmut
KUCUKOSMANOGLU, Ercan
BASTURK, Ahmet
Source :
Asthma Allergy Immunology / Astim Allerji Immunoloji. Aug2024, Vol. 22 Issue 2, p193-196. 4p.
Publication Year :
2024

Abstract

The inducible T-cell costimulator (ICOS) deficiency was first described in 2003. Autosomal re-cessive inherited ICOS deficiency is classified as combined immunodeficiency (CID) and has a wide clinical spectrum including hypogammaglobulinemia, recurrent infections, enteropathies, autoimmunity, lymphoproliferation, and malignancy. WAS/WASL Interacting Protein Family Member 1 (WIPF1) mutation causes WIP deficiency, characterized by thrombocytopenia, immu-nodeficiency, and eczema. Here, we aimed to present a patient with coexisting ICOS and WIP de-ficiency. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
13089234
Volume :
22
Issue :
2
Database :
Academic Search Index
Journal :
Asthma Allergy Immunology / Astim Allerji Immunoloji
Publication Type :
Academic Journal
Accession number :
179707629
Full Text :
https://doi.org/10.21911/aai.2024.449