The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation
Abstract The Mulibrey (Muscle–liver–brain–eye) nanism caused by loss-of-function variants
in TRIM37 gene is an autosomal recessive disorder characterized by severe growth failure …
in TRIM37 gene is an autosomal recessive disorder characterized by severe growth failure …
A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report
B Al-Saud, H Alajlan, H Alruwaili, L Almoaibed… - Frontiers in …, 2024 - frontiersin.org
Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined
immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia) …
immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia) …
[HTML][HTML] Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency
A El Kettani, H Ouair, F Marnissi, J El Bakkouri… - Viruses, 2024 - mdpi.com
Epidermodysplasia verruciformis (EV) is a rare genodermatosis caused by β-human
papillomaviruses (HPV) in immunodeficient patients. EV is characterized by flat warts and …
papillomaviruses (HPV) in immunodeficient patients. EV is characterized by flat warts and …
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency
W Ying, X Long, T Vandergriff, H Karnati… - Journal of Clinical …, 2024 - Springer
The clinical penetrance of infectious diseases varies considerably among patients with
inborn errors of immunity (IEI), even for identical genetic defects. This variability is influenced …
inborn errors of immunity (IEI), even for identical genetic defects. This variability is influenced …
Immunodeficiency, Leukemia, and Lymphoma
A Srinivasan, AA Sinha, JK Frazer - 2022 - Springer
Leukemias and lymphomas are the dominant malignancies in childhood, comprising over
one third of all pediatric cancer cases. They are also prevalent in adulthood, each being …
one third of all pediatric cancer cases. They are also prevalent in adulthood, each being …