Immunodeficiency 21

Preferred Label : Immunodeficiency 21;

Symbol : IMD21;

CISMeF acronym : DCML; IMD21; MONOMAC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MONOMAC; DCML; Dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency; Gata2 deficiency; Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections; Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia; Monocytopenia and mycobacterial infection syndrome;

Description : This primary immunodeficiency, designated DCML or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T cell numbers. Clinical features of DCML include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. Both autosomal dominant transmission and sporadic cases occur (Bigley et al., 2011; Hsu et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein 2 gene (GATA2, 137295.0001);

Neoplasia : Susceptibility to myeloid leukemia; Susceptibility to myelodysplasia;

Prefixed ID : #614172;

Details

Origin ID

614172;

UMLS CUI

C3280030;

Automatic exact mappings (from CISMeF team)
- GATA2 Deficiency [NCIt concept]
- GATA2 Deficiency [MeSH Descriptor]
- GATA2 wt Allele [NCIt concept]
- immunodeficiency 21 [DO Concept]
Currated CISMeF NLP mapping
- Monocytopenia with susceptibility to infections [ORDO Disease]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]
DO Cross reference
- immunodeficiency 21 [DO Concept]
Genes related to phenotype
- Gata-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormal natural killer cell morphology [HPO term]
- Aplastic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Monocytopenia [HPO term]
- Myelodysplasia [HPO term]
- Myeloid leukemia [HPO term]
- Neutropenia [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent mycobacterium avium complex infections [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Monocytopenia with susceptibility to infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GATA2 Deficiency [NCIt concept]
- GATA2 Deficiency [MeSH Descriptor]
- GATA2 deficiency [MedDRA Preferred Term]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients