Information on CID37

Basic details

Name: Combined immunodeficiency 37 | Acronym: CID37
Alt. names: MAN2B2 deficiency

Gene: MAN2B2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 1 | First reported in: 2020

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

OMIM:

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Only one patients has been described thus far. Patient presented with recurrent infections, vasculitis, arthritis, failure to thrive, microcephaly, neurodevelopmental delay and a congenital disorder of glycosylation (PMID:31775018). Immunophenotyping showed normal/low Ig levels and low levels of B and T cells.

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

1 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
107212arrow icon F 216374 2 0 Definitive Saudi Arabia Arab PMID:31775018 [Patient]

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 Convex nasal ridgearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Delayed ability to walk with supportarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Encephalomalaciaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Nasogastric tube feedingarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Abnormal sternum morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 (unusual) Respiratory tract infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Mucocutaneous candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Hepatopathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Hyperextensible skinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Global developmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Small vessel vasculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Vasculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Thromboembolic strokearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Rheumatoid factor positivearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Autoimmunityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Gliosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Abnormal lymphoproliferationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Microcephalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 short staturearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Lung diseasearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Enteropathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Decreased body weightarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Thymus aplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
26 Failure to thrivearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Herpes labialis, recurrentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
28 (unusual) Viral infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
29 Arthritisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Immune dysregulationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
31 Oral candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
32 Pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
33 Autoimmune antibody positivityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
34 Cerebral infarctarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
35 Hemiparesisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
36 Strabismusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
37 Delayed speech and language developmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
38 Neurodevelopmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.