recurrent infections associated with rare immunoglobulin isotypes deficiency

MONDO:0013576Mondo

Findings

No curated finding names recurrent infections associated with rare immunoglobulin isotypes deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.

Definition from the Mondo Disease Ontology (MONDO:0013576), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Childhood onset

Features

49 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Absent circulating kappa chain-bearing immunoglobulinHPOHP:6000261
- 1 of 1 reported patient
Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

HGNC:5716HGNC:5716
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Unknown · 2021
- Limited · ClinGen · Autosomal recessive · 2021
HGNC:5526HGNC:5526
- Supportive · Orphanet · Unknown · 2021

Where it sits

A kind of: hereditary disease
inborn error of immunity

Other names

3 names

Resolves to: recurrent infections associated with rare immunoglobulin isotypes deficiency

Also called: IgG subclass deficiency with IgA subclass deficiencyisolated IgG subclass deficiencykappa-chain deficiency

Show the remaining 37

ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
Atopic dermatitisHPOHP:0001047
- Occasional (5% to 29% of cases)
BronchiectasisHPOHP:0002110
- Occasional (5% to 29% of cases)
BronchitisHPOHP:0012387
- Occasional (5% to 29% of cases)
Chronic gastritisHPOHP:0005231
- Occasional (5% to 29% of cases)
Chronic sinusitisHPOHP:0011109
- Occasional (5% to 29% of cases)
Decreased circulating IgA concentrationHPOHP:0002720
- Occasional (5% to 29% of cases)
Decreased circulating IgG concentrationHPOHP:0004315
- Occasional (5% to 29% of cases)
Decreased circulating IgM concentrationHPOHP:0002850
- Occasional (5% to 29% of cases)
FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
MyalgiaHPOHP:0003326
- Occasional (5% to 29% of cases)
PneumoniaHPOHP:0002090
- Occasional (5% to 29% of cases)
Recurrent otitis mediaHPOHP:0000403
- Occasional (5% to 29% of cases)
Recurrent pneumoniaHPOHP:0006532
- Occasional (5% to 29% of cases)
Recurrent streptococcal infectionsHPOHP:0020096
- Occasional (5% to 29% of cases)
Recurrent tonsillitisHPOHP:0011110
- Occasional (5% to 29% of cases)
Recurrent urinary tract infectionsHPOHP:0000010
- Occasional (5% to 29% of cases)
Systemic lupus erythematosusHPOHP:0002725
- Occasional (5% to 29% of cases)
Celiac diseaseHPOHP:0002608
- Very rare (1% to 4% of cases)
Cerebrospinal fluid rhinorrhoeaHPOHP:0030998
- Very rare (1% to 4% of cases)
CholangitisHPOHP:0030151
- Very rare (1% to 4% of cases)
CholecystitisHPOHP:0001082
- Very rare (1% to 4% of cases)
Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- Very rare (1% to 4% of cases)
Diabetes mellitusHPOHP:0000819
- Very rare (1% to 4% of cases)
EpididymitisHPOHP:0000031
- Very rare (1% to 4% of cases)
Food allergyHPOHP:0500093
- Very rare (1% to 4% of cases)
Liver abscessHPOHP:0100523
- Very rare (1% to 4% of cases)
LymphomaHPOHP:0002665
- Very rare (1% to 4% of cases)
Psoriasiform dermatitisHPOHP:0003765
- Very rare (1% to 4% of cases)
Pulmonary tuberculosisHPOHP:0032262
- Very rare (1% to 4% of cases)
Recurrent herpesHPOHP:0005353
- Very rare (1% to 4% of cases)
Recurrent shinglesHPOHP:0032275
- Very rare (1% to 4% of cases)
Rheumatoid arthritisHPOHP:0001370
- Very rare (1% to 4% of cases)
SclerodermaHPOHP:0100324
- Very rare (1% to 4% of cases)
SepsisHPOHP:0100806
- Very rare (1% to 4% of cases)
Skin rashHPOHP:0000988
- Very rare (1% to 4% of cases)
Viral hepatitisHPOHP:0006562
- Very rare (1% to 4% of cases)