Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.G14S
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JAGN1

NM_032492.4:p.G14S

Associated Papers

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Fekadu-Siebald J et al.

Blood Advances, 2025

JAGN1 mutation with distinct clinical features; two case reports and literature review.

Hojabri M et al.

Bmc Pediatrics, 2023

Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Hassanzadeh S et al.

Irish Journal of Medical Science, 2023

Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review.

Thomas S et al.

Frontiers in Pediatrics, 2023

A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.

Hagelkruys A et al.

The Journal of Experimental Medicine, 2021

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.

Khandagale A et al.

British Journal of Haematology, 2021

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Çipe FE et al.

The Turkish Journal of Pediatrics, 2020

JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia.

Khandagale A et al.

Journal of Leukocyte Biology, 2018

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

Sheikhbahaei S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Boztug K et al.

Nature Genetics, 2014

HAX1 mutation in an infant with severe congenital neutropenia.

Eghbali A et al.

The Turkish Journal of Pediatrics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."