ORPHA:183675
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Synonyms: IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency · Kappa-chain deficiency · Selective IgG subclass deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recurrent infections associated with rare immunoglobulin isotypes deficiency | IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency · Kappa-chain deficiency · Selective IgG subclass deficiency |
| fr | Infection récurrente associée à un déficit rare en isotype d'immunoglobuline | Déficit en chaîne kappa · Déficit en sous-classe d'IgG avec déficit en sous-classe d'IgA · Déficit isolé en sous-classe d'IgG · Déficit sélectif en IgG |
| de | Rezidivierende Infekte mit assoziierten Immunoglobulin-Isotypen | |
| es | Infecciones recurrentes asociadas a una deficiencia rara de isotipos de inmunoglobulinas | Deficiencia de cadena Kappa · Deficiencia de subclase de IgG aislado · Deficiencia de subclase de IgG con deficiencia de subclase de IgA · Deficiencia selectiva de subclases de IgG |
| it | Infezioni ricorrenti associate a deficit raro degli isotipi dell'immunoglobulina | Deficit della sottoclasse delle IgG associato a deficit della sottoclasse delle IgA · Deficit delle catene kappa · Deficit isolato della sottoclasse delle IgG · Deficit selettivo della sottoclasse IgG |
| nl | Recidiverende infecties geassocieerd met zeldzame deficiëntie van immunoglobuline-isotypes | Deficiëntie van IgG-subklasse met deficiëntie van IgA-subklasse · Deficiëntie van kappa-keten · Geïsoleerde IgG-subklasse-deficiëntie · Selectieve IgG-subklasse-deficiëntie |
| pt | Infeções recorrentes associadas a deficiência de isotipos de imunoglobulina raros | |
| pl | Nawracające infekcje związane z niedoborem rzadkich izotypów immunoglobulin | Izolowany Niedobór podklasy IgG · Niedobór łańcuchów kappa · Niedobór podklasy IgG z niedoborem podklasy IgA · Selektywny Niedobór podklasy IgG |
| cs | Rekurentní infekce asociované s vzácnými deficity imunoglobulinů | Izolovaný IgG deficit · Selektivní IgG deficit · Deficit kappa lehkých řetězců |
| uk | Рецидивуючі інфекції, повязані з дефіцитом рідкісних ізотипів імуноглобулінів | Дефіцит підкласу IgG з дефіцитом підкласу IgA · Ізольований дефіцит підкласу IgG · Дефіцит каппа-ланцюгів · Селективний дефіцит підкласу IgG |
| zh | 罕见同型免疫球蛋白缺乏所致复发性感染 | IgG亚类缺陷伴IgA亚类缺项 |
| tr | Nadir immünoglobulin izotip eksikliği -ilişkili tekrarlayan enfeksiyonlar | Kappa zinciri eksikliği · İzole IgG alt sınıf eksikliği · Seçici IgG alt sınıf eksikliği · IgA altsınıf eksikliği ile seyreden IgG alt sınıf eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614102 | E | validated | |
| ICD-10 | D80.8 | NTBT | inclusion | validated |
| ICD-11 | 4A01.04 | NTBT | index | validated |
| MONDO | 0013576 | E | validated | |
| MeSH | C564131 | E | validated | |
| UMLS | C3279824 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGHG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5526 | ENSG00000211893 | 147110 | 14q32.33 | immunoglobulin heavy constant gamma 2 (G2m marker) | 9449702[PMID] |
| IGKC | Disease-causing germline mutation(s) in | Assessed | HGNC:5716 | ENSG00000211592 | 147200 | 2p11.2 | immunoglobulin kappa constant |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
47 annotations · validated 2021-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002099 | Asthma | |
| HP:0002960 | Autoimmunity | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0002719 | Recurrent infections | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0032169 | Severe infection | |
| Occasional (29-5%) | ||
| HP:0003193 | Allergic rhinitis | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0001047 | Atopic dermatitis | |
| HP:0002110 | Bronchiectasis | |
| HP:0012387 | Bronchitis | |
| HP:0005231 | Chronic gastritis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0012378 | Fatigue | |
| HP:0003326 | Myalgia | |
| HP:0002090 | Pneumonia | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0020096 | Recurrent streptococcal infections | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002725 | Systemic lupus erythematosus | |
| Very rare (<4-1%) | ||
| HP:0002608 | Celiac disease | |
| HP:0030998 | Cerebrospinal fluid rhinorrhoea | |
| HP:0030151 | Cholangitis | |
| HP:0001082 | Cholecystitis | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000031 | Epididymitis | |
| HP:0500093 | Food allergy | |
| HP:0100523 | Liver abscess | |
| HP:0002665 | Lymphoma | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0032262 | Pulmonary tuberculosis | |
| HP:0005353 | Recurrent herpes | |
| HP:0032275 | Recurrent shingles | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0100324 | Scleroderma | |
| HP:0100806 | Sepsis | |
| HP:0000988 | Skin rash | |
| HP:0012476 | Specific pneumococcal antibody deficiency | |
| HP:0006562 | Viral hepatitis | |
Annotation source: 25312759[PMID]_28984901[PMID]_32157736[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183675
- This record as JSON: /data/d/183675.json