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.

Also known as combined immunodeficiency due to MALT1 deficiency, immunodeficiency type 12 — per MONDO

Also identified as

• DOID 0111988 per MONDO
• OMIM 615468 per MONDO
• Orphanet 397964 per MONDO
• UMLS C3809583 per MONDO