Proteomics

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NCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome

ABSTRACT: The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. NCKAP1L is involved in lymphocyte development, phagocytosis and neutrophils migration. Here we report the first cases of NCKAP1L-deficiency in man, as homozygous non-sense or splice variants, observed in 2 independent patients of Middle-Eastern origin of 1.5 months and 9 years of age respectively. We described a novel nosological entity, combining to various degrees, immune deficiency, lymphoproliferation within a highly inflammatory syndrome, reminiscent, yet distinct of HLH; due to recessive mutations in NCKAP1L.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood

SUBMITTER: Aurélie Hirschler  

LAB HEAD: Christine Carapito

PROVIDER: PXD016191 | Pride | 2020-07-31

REPOSITORIES: Pride

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NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

Castro Carla Noemi CN   Rosenzwajg Michelle M   Carapito Raphael R   Shahrooei Mohammad M   Konantz Martina M   Khan Amjad A   Miao Zhichao Z   Groß Miriam M   Tranchant Thibaud T   Radosavljevic Mirjana M   Paul Nicodème N   Stemmelen Tristan T   Pitoiset Fabien F   Hirschler Aurélie A   Nespola Benoit B   Molitor Anne A   Rolli Véronique V   Pichot Angélique A   Faletti Laura Eva LE   Rinaldi Bruno B   Friant Sylvie S   Mednikov Mark M   Karauzum Hatice H   Aman M Javad MJ   Carapito Christine C   Lengerke Claudia C   Ziaee Vahid V   Eyaid Wafaa W   Ehl Stephan S   Alroqi Fayhan F   Parvaneh Nima N   Bahram Seiamak S  

The Journal of experimental medicine 20201201 12

The Nck-associated protein 1-like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage-specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle Eastern origin, recessive mutations in NCKAP1L abolishing protein expression led to immunodeficiency, lym  ...[more]

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