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):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood

SUBMITTER: Aurélie Hirschler  

LAB HEAD: Christine Carapito

PROVIDER: PXD016191 | Pride | 2020-07-31

REPOSITORIES: Pride