Information on HIGM1
Basic details
Name: Hyper-IgM syndrome type 1 | Acronym: HIGM1
Alt. names: X-linked hyper IgM syndrome | Hyper-IgM Immunodeficiency Syndrome, Type 1 | Immunodeficiency, with hyper-IgM, type 1
Gene: CD40LG | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1993
Last updated on: 2023-05-17 17:13:47 by
Description
An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND. HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997).
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Individuals have been described as being at increased risk of malignancy, and awareness may allow early detection and management. BMT has been reported.
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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 | Absent | Unreported |
|---|---|---|---|---|
| 1 | Neutropenia |
39 (63.9%) | 0 (0.0%) | 22 (36.1%) |
| 2 | Diarrhea |
31 (55.4%) | 0 (0.0%) | 25 (44.6%) |
| 3 | Oral ulcer |
25 (44.6%) | 0 (0.0%) | 31 (55.4%) |
| 4 | Recurrent lower respiratory tract infections |
20 (35.7%) | 0 (0.0%) | 36 (64.3%) |
| 5 | Failure to thrive |
18 (32.1%) | 0 (0.0%) | 38 (67.9%) |
| 6 | Primary sclerosing cholangitis |
11 (19.6%) | 0 (0.0%) | 45 (80.4%) |
| 7 | Hepatitis |
9 (16.1%) | 0 (0.0%) | 47 (83.9%) |
| 8 | Septicaemia |
8 (14.3%) | 0 (0.0%) | 48 (85.7%) |
| 9 | cirrhosis |
6 (10.7%) | 0 (0.0%) | 50 (89.3%) |
| 10 | Enteroviral encephalitis |
6 (60.0%) | 0 (0.0%) | 4 (40.0%) |
| 11 | Decreased IgG levels |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Infantile onset |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Meningitis |
5 (8.9%) | 0 (0.0%) | 51 (91.1%) |
| 14 | Pneumocystis carinii pneumonia |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 15 | Global developmental delay |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 16 | Ankle clonus |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 17 | Oral candidiasis |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 18 | Developmental regression |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 19 | Hyperreflexia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 20 | Hypoxemia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 21 | Increased IgA levels |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 22 | Abnormal circulating IgM level |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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