Disorders of immune dysregulation
Gene: IKZF1
Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.
Sources: LiteratureCreated: 26 Jul 2022, 5:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immune dysregulation
Publications
Mode of pathogenicity
Other
PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.Created: 28 Jul 2022, 10:05 p.m. | Last Modified: 28 Jul 2022, 10:05 p.m.
Panel Version: 1.183
Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset.Created: 3 Aug 2021, 8:33 a.m. | Last Modified: 3 Aug 2021, 8:33 a.m.
Panel Version: 0.8617
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation
Publications
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 2:08 a.m. | Last Modified: 21 Jul 2020, 2:08 a.m.
Panel Version: 0.44
Gene: ikzf1 has been classified as Green List (High Evidence).
Gene: ikzf1 has been classified as Green List (High Evidence).
gene: IKZF1 was added gene: IKZF1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to PMID: 35333544 Phenotypes for gene: IKZF1 were set to Immune dysregulation Mode of pathogenicity for gene: IKZF1 was set to Other Review for gene: IKZF1 was set to GREEN