Information on CID36

Basic details

Name: Combined immunodeficiency 36 | Acronym: CID36
Alt. names: Immunodeficiency 102 | IMD102 | SASH3 deficiency

Gene: SASH3 | MOI: X-linked | Mechanism of action: Loss of Function

No. of cases in DB: 3 | First reported in: 2021

Last updated on: 2023-09-19 08:10:01 by Andr�s Caballero-Oteyza

OMIM: 301082

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

To date, 6 male patients have been reported: four with a combined immunodeficiency phenotype (PMID:33876203), one with a CVID phenotype (PMID:35464398), and one with Evan's syndrome (PMID:37646304). The younger brother of the latter was an asympomatic mutation carrier at the time of study, although he shared immunophenotypic features, such as reduced numbers of naive T cells and altered TCR signalling. The previously reported patients presented with recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cyto-/neutropenias. Immunophenotyping revealed T/NK and B cell lymphopenias and low or poor specific antibody responses.

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

3 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code
105075	M	215636	43	4		Spain	Spanish	PMID:35464398 [P5(II.1)]
105251	M	215678	19	3		U.S.A.		PMID:33876203 [P1(II.1)]
106366	M	216002	15	8	Definitive			PMID:37646304 [P1(IV.1)]

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	Absent	Unreported
1	(unusual) Respiratory tract infection	2 (66.7%)	0 (0.0%)	1 (33.3%)
2	Warts	2 (66.7%)	0 (0.0%)	1 (33.3%)
3	Lung disease	2 (66.7%)	0 (0.0%)	1 (33.3%)
4	(unusual) Viral infection	2 (66.7%)	0 (0.0%)	1 (33.3%)
5	Pneumonia	2 (66.7%)	0 (0.0%)	1 (33.3%)
6	Decreased IgG levels	1 (33.3%)	0 (0.0%)	2 (66.7%)
7	Recurrent upper respiratory tract infection	1 (33.3%)	0 (0.0%)	2 (66.7%)
8	Thrombocytopenia	1 (33.3%)	0 (0.0%)	2 (66.7%)
9	Cellulitis	1 (33.3%)	0 (0.0%)	2 (66.7%)
10	Necrotizing soft tissue infection	1 (33.3%)	0 (0.0%)	2 (66.7%)
11	Decreased IgM levels	1 (33.3%)	0 (0.0%)	2 (66.7%)
12	Reduced number of B cells	1 (33.3%)	0 (0.0%)	2 (66.7%)
13	Autoimmunity	1 (33.3%)	0 (0.0%)	2 (66.7%)
14	Increased IgE levels	1 (33.3%)	0 (0.0%)	2 (66.7%)
15	Autoimmune hemolytic anemia	1 (33.3%)	0 (0.0%)	2 (66.7%)
16	Neutropenia	1 (33.3%)	0 (0.0%)	2 (66.7%)
17	Autoimmune cytopenia	1 (33.3%)	0 (0.0%)	2 (66.7%)
18	Reduced proportion of naive CD4 T cells	1 (33.3%)	0 (0.0%)	2 (66.7%)
19	Atopy	1 (33.3%)	0 (0.0%)	2 (66.7%)
20	Allergy	1 (33.3%)	0 (0.0%)	2 (66.7%)
21	Recurrent pneumonia	1 (33.3%)	0 (0.0%)	2 (66.7%)
22	Leukopenia	1 (33.3%)	0 (0.0%)	2 (66.7%)
23	Food allergy	1 (33.3%)	0 (0.0%)	2 (66.7%)
24	Varicella zoster virus infection	1 (33.3%)	0 (0.0%)	2 (66.7%)
25	Hypogammaglobulinemia	1 (33.3%)	0 (0.0%)	2 (66.7%)
26	Reduced ab-response to pneumococcal polysaccharide vaccine	1 (33.3%)	0 (0.0%)	2 (66.7%)
27	Periodontitis	1 (33.3%)	0 (0.0%)	2 (66.7%)
28	T-cell large granular lymphocyte leukemia	1 (33.3%)	0 (0.0%)	2 (66.7%)
29	Aphthous oral ulcer	1 (33.3%)	0 (0.0%)	2 (66.7%)
30	Skin infections	1 (33.3%)	0 (0.0%)	2 (66.7%)
31	Decreased IgA levels	0 (0.0%)	1 (33.3%)	2 (66.7%)
32	Reduced T cell count	0 (0.0%)	1 (33.3%)	2 (66.7%)

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications
Intravenous immunoglobulin therapy	Good (1) for Decreased IgG levels

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.