Details of Disease

General Information of Disease (ID: DIS2QVF0)

Disease Name Combined immunodeficiency due to MALT1 deficiency
Synonyms IMD12; immunodeficiency 12; immunodeficiency type 12; combined immunodeficiency due to MALT1 deficiency
Definition
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
Disease Hierarchy
DISKR6QJ: Combined immunodeficiency
DIS2QVF0: Combined immunodeficiency due to MALT1 deficiency
Disease Identifiers
MONDO ID
MONDO_0014197
UMLS CUI
C3809583
OMIM ID
615468
MedGen ID
815913
Orphanet ID
397964

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MALT1 TTCI81G Strong Biomarker [1]
MALT1 TTCI81G Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MALT1 OTM3H5OA Definitive Autosomal recessive [2]
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References

1 Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.J Clin Immunol. 2015 Feb;35(2):135-46. doi: 10.1007/s10875-014-0125-1. Epub 2015 Jan 28.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.