Information on CID37

Name: Combined immunodeficiency 37 | Acronym: CID37
Alt. names: MAN2B2 deficiency | CDG1EE | Congenital disorder of glycosylation type 1EE with or without immunodeficiency

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

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

Last updated on: 2025-03-29 by Andrés Caballero-Oteyza

OMIM: 621140

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

One Saudi girl was originally described carrying a homozygous (D38N) missense mutation. The 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. Detailed biochemical analysis of patient cells showed abnormal accumulation of certain N-linked glycans and abnormal N-glycosylation with lysosomal involvement. Additional patients have been subsequently reported by Tian et al. in 2023 (PMID:35637269) and by Fan et al. (2024) (PMID:38622837) carrying compound heterozygous mutations.

Management

Management focuses on symptomatic care, including IVIg for immune support and dietary interventions for gastrointestinal symptoms. While some CDG types respond to substrate supplementation (e.g., mannose for MPI-CDG), CDG1EE treatment remains largely supportive. Early genetic testing is critical due to phenotypic overlap with other CDGs.

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Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical phenotype Present Absent Unreported
1 Convex nasal ridgearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Unusual infection by anatomical sitearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Abnormal conjugate eye movementarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Delayed ability to walk with supportarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Abnormal blood vessel morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Tube feedingarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Encephalomalaciaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Decreased head circumferencearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Nasogastric tube feedingarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Abnormal thorax morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Abnormal sternum morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 (unusual) Respiratory tract infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Abnormal glial cell morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Mucocutaneous candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Abnormal liver morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Hepatopathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Hyperextensible skinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Global developmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Abnormal joint morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Vasculitis by anatomical sitearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Small vessel vasculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Vasculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Thromboembolic strokearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Thromboembolismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Rheumatoid factor positivearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
26 Abnormal cerebral morphologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Gliosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
28 Delayed gross motor developmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
29 Language impairmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Abnormal lymphoproliferationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
31 Microcephalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
32 short staturearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
33 Nervous system abnormalityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
34 Visceromegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
35 Lung diseasearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
36 Enteropathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
37 Herpes Simplex Virus Infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
38 Abnormality of body weightarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
39 Decreased body weightarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
40 Hemiplegia/hemiparesisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
41 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
42 Thymus aplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
43 Growth delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
44 Diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
45 Failure to thrivearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
46 Aplasia/Hypoplasia of the cerebrumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
47 Abnormally lax or hyperextensible skinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
48 Herpes labialis, recurrentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
49 Arthritisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
50 Immune dysregulationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
51 Oral candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
52 Pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
53 Autoimmune antibody positivityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
54 Aplasia/Hypoplasia of the thymusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
55 Cerebral infarctarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
56 Abnormality of immune system physiologyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
57 Abnormality of the nasal dorsumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
58 Abnormal central motor functionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
59 Hemiparesisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
60 Neurological speech impairmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
61 Abdominal symptomarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
62 Strabismusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
63 Delayed speech and language developmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
64 Neurodevelopmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
65 Abnormality of body heightarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
66 Increased inflammatory responsearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
67 Neurodevelopmental abnormalityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
Age of onset
distribution

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications
Intravenous immunoglobulin therapy
 Unspecified (1) for (unusual) Respiratory tract infection

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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).