Whole‐exome sequencing of T ‐ B +  severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants | Zendy

El Hawary R. | Zendy; Meshaal S. | Zendy; Mauracher A.A. | Zendy; Opitz L. | Zendy; Abd Elaziz D. | Zendy; Lotfy S. | Zendy; Eldash A. | Zendy; Boutros J. | Zendy; Galal N. | Zendy; Pachlopnik Schmid J. | Zendy; Elmarsafy A. | Zendy

Open Access

Whole‐exome sequencing of T ‐ B + severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

Author(s) -

El Hawary R.,

Meshaal S.,

Mauracher A.A.,

Opitz L.,

Abd Elaziz D.,

Lotfy S.,

Eldash A.,

Boutros J.,

Galal N.,

Pachlopnik Schmid J.,

Elmarsafy A.

Publication year - 2021

Publication title -

clinical & experimental immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.329

H-Index - 135

eISSN - 1365-2249

pISSN - 0009-9104

DOI - 10.1111/cei.13536

Subject(s) - exome sequencing , sanger sequencing , severe combined immunodeficiency , medicine , failure to thrive , immunodeficiency , primary immunodeficiency , immunology , rash , pediatrics , biology , immune system , mutation , gene , genetics

The clinical manifestations in the T ‐ B + SCID patients includes failure to thrive, oral candidiasis, diarrhea, pneumonia, napkin dermatitis, skin rash, otitis media and meningitis. Genetic analysis of T ‐ B + Egyptian SCID patients revealed variants in JAK3 gene in 60% of the patients, IL2RG in 30%, IL7RA in 5% and CD3E in 5%. JAK3 gene should be sequenced in all T ‐ B + patients especially if X SCID is ruled out in male patients by analyzing the family’s pedigree, medical history and Sanger sequencing.

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