Combined immunodeficiency due to Moesin deficiency
Synonyms: CID due to Moesin deficiency · MSN-related combined immunodeficiency · X-linked Moesin-associated immunodeficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to Moesin deficiency | CID due to Moesin deficiency · MSN-related combined immunodeficiency · X-linked Moesin-associated immunodeficiency |
| fr | Déficit immunitaire combiné par déficit en Moesin | CID par déficit en Moesin · DIC par déficit en Moesin |
| de | Kombinierter Immundefekt durch Moesin-Defizienz | CID durch Moesin-Mangel · Immundefekt, X-chromosomaler, MSN-assoziierter · Immundefekt, kombinierter, durch Moesin-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de moesina | IDC por deficiencia de moesina · Inmunodeficiencia combinada asociada a MSN · Inmunodeficiencia ligada al cromosoma X asociada a moesina |
| it | Immunodeficienza combinata da deficit di moesina | |
| nl | Gecombineerde immuundeficiëntie door Moesin-deficiëntie | CID door Moesin-deficiëntie · MSN-gerelateerde gecombineerde immuundeficiëntie · X-gebonden Moesin-geassocieerde immuundeficiëntie |
| pt | Imunodeficiência combinada por deficiência de Moesina | |
| pl | Złożony niedobór odporności z powodu deficytu moezyny | = en |
| cs | Kombinovaná imunodeficience způsobená nedostatkem moesinu | MSN-vázaná kombinovaná imunodeficience · X-vázaná moesin-asociovaná imunodeficience · CID způsobená deficitem moesinu |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом Моезину | КІД через дефіцит моезіну · Комбінований імунодефіцит, повязаний з MSN · Х-зчеплений моезін-асоційований імунодефіцит |
| zh | 缺乏膜突蛋白联合免疫缺陷 | X染色体连锁的膜突蛋白相关免疫缺陷 |
| tr | Moesin eksikliğine bağlı kombine immün yetmezlik | Moesin eksikliğine bağlı CID · MSN-ilişkili kombine immün yetmezlik · X'e bağlı Moesin ile ilişkili immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300988 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0010514 | E | validated | |
| UMLS | C5568123 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MSN | Disease-causing germline mutation(s) in | Assessed | HGNC:7373 | ENSG00000147065 | 309845 | Xq12 | moesin | 27405666[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27405666[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27405666[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/504530
- This record as JSON: /data/d/504530.json