selective IgM deficiency

Summary

selective IgM deficiency (MONDO:0018039) is a disease and 1 clinical trial. A subtype of dysgammaglobulinemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 64
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

64 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0002719	Recurrent infections	Very frequent (80-99%)
HP:0032169	Severe infection	Very frequent (80-99%)
HP:0002850	Decreased circulating total IgM	Very frequent (80-99%)
HP:0002205	Recurrent respiratory infections	Very frequent (80-99%)
HP:0002960	Autoimmunity	Frequent (30-79%)
HP:0012393	Allergy	Frequent (30-79%)
HP:0032140	Decreased specific antibody response to vaccination	Frequent (30-79%)
HP:0002788	Recurrent upper respiratory tract infections	Frequent (30-79%)
HP:0006532	Recurrent pneumonia	Frequent (30-79%)
HP:0011108	Recurrent sinusitis	Frequent (30-79%)
HP:0001047	Atopic dermatitis	Occasional (5-29%)
HP:0001510	Growth delay	Occasional (5-29%)
HP:0200043	Verrucae	Occasional (5-29%)
HP:0030880	Raynaud phenomenon	Occasional (5-29%)
HP:0012432	Chronic fatigue	Occasional (5-29%)
HP:0000491	Keratitis	Occasional (5-29%)
HP:0011109	Chronic sinusitis	Occasional (5-29%)
HP:0000010	Recurrent urinary tract infections	Occasional (5-29%)
HP:0002110	Bronchiectasis	Occasional (5-29%)
HP:0032261	Nontuberculous mycobacterial pulmonary infection	Occasional (5-29%)
HP:0002725	Systemic lupus erythematosus	Occasional (5-29%)
HP:0001370	Rheumatoid arthritis	Occasional (5-29%)
HP:0001973	Autoimmune thrombocytopenia	Occasional (5-29%)
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	Occasional (5-29%)
HP:0003493	Antinuclear antibody positivity	Occasional (5-29%)
HP:0012204	Recurrent vulvovaginal candidiasis	Occasional (5-29%)
HP:0100658	Cellulitis	Occasional (5-29%)
HP:0005353	Recurrent herpes	Occasional (5-29%)
HP:0000388	Otitis media	Occasional (5-29%)
HP:0025439	Pharyngitis	Occasional (5-29%)
HP:0031691	Severe viral infection	Occasional (5-29%)
HP:0033430	Non-infectious meningitis	Occasional (5-29%)
HP:0011370	Recurrent cutaneous fungal infections	Occasional (5-29%)
HP:0007499	Recurrent staphylococcal infections	Occasional (5-29%)
HP:0002837	Recurrent bronchitis	Occasional (5-29%)
HP:0031292	Cutaneous abscess	Occasional (5-29%)
HP:0009098	Chronic oral candidiasis	Occasional (5-29%)
HP:0002028	Chronic diarrhea	Occasional (5-29%)
HP:0003193	Allergic rhinitis	Occasional (5-29%)
HP:0002099	Asthma	Occasional (5-29%)
HP:0031047	Paraproteinemia	Occasional (5-29%)
HP:0045080	Decreased proportion of CD3-positive T cells	Occasional (5-29%)
HP:0032218	Decreased proportion of CD4-positive T cells	Occasional (5-29%)
HP:0030380	Decreased proportion of transitional B cells	Occasional (5-29%)
HP:0002716	Lymphadenopathy	Occasional (5-29%)
HP:0004798	Recurrent infection of the gastrointestinal tract	Occasional (5-29%)
HP:0001287	Meningitis	Occasional (5-29%)
HP:0100806	Sepsis	Occasional (5-29%)
HP:0002720	Decreased circulating IgA level	Excluded (0%)
HP:0004315	Decreased circulating IgG level	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	selective IgM deficiency
Mondo ID	MONDO:0018039
Orphanet	331235
DOID	DOID:0050222
SNOMED CT	190980000
UMLS	C0154275
MedGen	57820
GARD	0012547
Is cancer (heuristic)	no

Also known as: selective IgM deficiency disease · selective immunoglobulin M deficiency · SIgMD

Data availability: 1 cell line.

Disease family

This is a subtype of dysgammaglobulinemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › inborn error of immunity › B cell deficiency › selective immunoglobulin deficiency disease › dysgammaglobulinemia › selective IgM deficiency

Related subtypes (3): selective IgA deficiency disease, selective IgE deficiency disease, selective IgG immunodeficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06355323	Not specified	COMPLETED	Bronchiectasis Prevalence in Patients With Primary Humoral Immunodefiency in Champagne-Ardenne Region, France