Information on CVID21

Basic details

Name: Immunodeficiency, common variable, 21 | Acronym: CVID21
Alt. names: RAC2 deficiency | IMD73C | Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia

Gene: RAC2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2015

Last updated on: 2023-02-28 16:41:18 by

OMIM: 618987

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Autosomal recessive form of CVID caused by biallelic LOF mutations in RAC2. It leads to defective neutrophil chemotaxix, and hypogammaglobulinemia.

Management

Immunodeficiency 73C has been described as involving endocrine manifestations (eg, hypothyroidism, hyperparathyroidism), and awareness may allow early diagnosis and management. Renal transplant has also been described.

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0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Abnormally low T cell receptor excision circle level	2 (99.9%)	0 (0.0%)
2	Reduced number of B cells	2 (99.9%)	0 (0.0%)
3	Decreased IgG levels	2 (99.9%)	0 (0.0%)
4	Decreased IgM levels	2 (99.9%)	0 (0.0%)
5	Recurrent respiratory infections	2 (99.9%)	0 (0.0%)
6	Failure to thrive in infancy	1 (50.0%)	1 (50.0%)
7	Urticaria	1 (50.0%)	1 (50.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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