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combined immunodeficiency due to MALT1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens.
Mondo Term and Equivalent IDs
MONDO:0014197:  combined immunodeficiency due to MALT1 deficiency
Orphanet:397964: 
UMLS:C3809583: