MALT1 deficiency
Related gene: MALT1
Inheritance pattern: Autosomal recessive
The mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1) is important to control inflammation. MALT1 deficiency has an autosomal recessive transmission pattern. Clinical presentations include failure to thrive, severe eczema, recurrent bacterial and viral skin and lung infections with resultant chronic inflammatory lung disease, meningitis, inflammatory gastrointestinal disease, long bone fractures, recurrent production of granulation tissue, severe periodontal disease and persistent cytomegalovirus (CMV) infection. These individuals have normal newborn screening for SCID. Lymphocyte numbers are normal, with normal T and NK cell numbers. IgG, IgA, and IgM levels and production of protective antibody titers are normal. B cell phenotype may present abnormalities.
