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

doi:10.1084/jem.20192275

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Article

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

The Journal of experimental medicine - 7 Dec 2020

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

Abstract excerpt

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,...

Topics

Actins
Animals
Cell Degranulation
Cell Proliferation
Child
Cytotoxicity, Immunologic
Family
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Immunologic Deficiency Syndromes

Immunological Synapses

Infant

Inflammation

Lymphocyte Activation

Lymphoproliferative Disorders

Male

Membrane Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 32766723
DOI: 10.1084/jem.20192275
PMCID: PMC7526481

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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