DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

doi:10.1007/s10875-024-01777-8

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Article

DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

Journal of clinical immunology - 9 Aug 2024

Azizoglu Zehra Busra, Babayeva Royala, Haskologlu Zehra Sule, Acar Mustafa Burak, Ayaz-Guner Serife, Okus Fatma Zehra, Alsavaf Mohammad Bilal, Can Salim, Basaran Kemal Erdem, Canatan Mehmed Fatih, Ozcan Alper, Erkmen Hasret, Leblebici Can Berk, Yilmaz Ebru, Karakukcu Musa, Kose Mehmet, Canoz Ozlem, Özen Ahmet, Karakoc-Aydiner Elif, Ceylaner Serdar, Gümüş Gülsüm, Per Huseyin, Gumus Hakan, Canatan Halit, Ozcan Servet, Dogu Figen, Ikinciogullari Aydan, Unal Ekrem, Baris Safa, Eken Ahmet

Abstract excerpt

Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of...

Topics

Humans
Formins
Killer Cells, Natural
Male
Jurkat Cells
Female
Mutation
Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Immunity, Innate

Child, Preschool

Cytokines

Signal Transduction

Immunophenotyping

T-Lymphocytes

Source

Open in PubMed Open full text

Identifiers

PMID: 39120629
DOI: 10.1007/s10875-024-01777-8
PMCID: PMC11315734

Provenance

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

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