Disorders of immune dysregulation
Gene: DOCK2
Patient with recurrent HLH. Heterozygous c.1334A>G (p.Asn445Ser) variant. Functional studies showing lower CD107a expression and diminished NK degranulation and cytotoxicity. ? partial dominant negative.
Sources: LiteratureCreated: 28 Feb 2023, 5:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HLH
Publications
13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).Created: 27 Jul 2021, 6:44 a.m. | Last Modified: 27 Jul 2021, 6:44 a.m.
Panel Version: 0.8527
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels
Publications
Gene: dock2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DOCK2 were changed from HLH to Genetic hemophagocytic lymphohistiocytosis MONDO:0015541
Gene: dock2 has been classified as Amber List (Moderate Evidence).
gene: DOCK2 was added gene: DOCK2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DOCK2 were set to PMID: 36836791 Phenotypes for gene: DOCK2 were set to HLH Review for gene: DOCK2 was set to AMBER