ORPHA:331235
Selective IgM deficiency
Synonyms: Selective immunoglobulin M deficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Selective IgM deficiency | Selective immunoglobulin M deficiency |
| fr | Déficit sélectif en IgM | Déficit sélectif en immunoglobuline M |
| de | IgM-Mangel, selektiver | Immunoglobulin M-Mangel, selektiver |
| es | Deficiencia de IgM selectiva | Deficiencia de inmunoglobulina M selectiva |
| it | Deficit selettivo di IgM | Deficit selettivo delle immunoglobuline M |
| nl | Selectieve IgM-deficiëntie | Selectieve immunoglobuline M-deficiëntie |
| pt | Défice seletivo de IgM | |
| pl | Selektywny Niedobór IgM | Selektywny Niedobór immunoglobuliny M |
| cs | Selektivní deficit IgM | Selektivní deficit imunoglobulinu M |
| uk | Селективний дефіцит IgM | Селективний дефіцит імуноглобуліну М |
| zh | 选择性IgM缺陷 | 选择性免疫球蛋白M缺陷 |
| tr | Seçici IgM eksikliği | Seçici immünoglobulin M eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D80.4 | E | specific | validated |
| ICD-11 | 4A01.04 | NTBT | index | validated |
| MONDO | 0018039 | E | validated | |
| UMLS | C0154275 | E | validated | |
| GARD | 12547 | E | validated | |
| MedDRA | 10039916 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:331232Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
rare genetic diseases; rare immunological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_23760686[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
64 annotations · validated 2021-05-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002850 | Decreased circulating total IgM | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0032169 | Severe infection | |
| Frequent (79-30%) | ||
| HP:0012393 | Allergy | |
| HP:0002960 | Autoimmunity | |
| HP:0032140 | Decreased specific antibody response to vaccination | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| Occasional (29-5%) | ||
| HP:0003193 | Allergic rhinitis | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002099 | Asthma | |
| HP:0001047 | Atopic dermatitis | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002110 | Bronchiectasis | |
| HP:0100658 | Cellulitis | |
| HP:0002028 | Chronic diarrhea | |
| HP:0012432 | Chronic fatigue | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0031292 | Cutaneous abscess | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0030380 | Decreased proportion of transitional B cells | |
| HP:0001510 | Growth delay | |
| HP:0000491 | Keratitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001287 | Meningitis | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0033430 | Non-infectious meningitis | |
| HP:0032261 | Nontuberculous mycobacterial pulmonary infection | |
| HP:0000388 | Otitis media | |
| HP:0031047 | Paraproteinemia | |
| HP:0025439 | Pharyngitis | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002837 | Recurrent bronchitis | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| HP:0005353 | Recurrent herpes | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0007499 | Recurrent staphylococcal infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0012204 | Recurrent vulvovaginal candidiasis | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0100806 | Sepsis | |
| HP:0031691 | Severe viral infection | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0200043 | Verrucae | |
| Very rare (<4-1%) | ||
| HP:0100280 | Crohn's disease | |
| HP:0005415 | Decreased proportion of CD8-positive T cells | |
| HP:0100537 | Fasciitis | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0002840 | Lymphadenitis | |
| HP:0006775 | Multiple myeloma | |
| HP:0012539 | Non-Hodgkin lymphoma | |
| HP:0012203 | Onychomycosis | |
| HP:0032262 | Pulmonary tuberculosis | |
| HP:0032275 | Recurrent shingles | |
| HP:0032170 | Severe varicella zoster infection | |
| HP:0012126 | Stomach cancer | |
| HP:0002890 | Thyroid carcinoma | |
| HP:0030757 | Tooth abscess | |
| Excluded (0%) | ||
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28984901[PMID]_31970029[PMID]_33706406[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/331235
- This record as JSON: /data/d/331235.json