Immunodeficiency 31B B37.-

Immunodeficiency 31B also referred to as IMD31C, is a congenital immunodeficiency with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1.

Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC - Yamazaki Y et al 2014). Other highly variable features include recurrent bacterial, viral, mycotic, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders such as hypothyroidism or diabetes mellitus. A subset of patients exhibit apparent nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms (Uzel G et al. 2013).

1. Uzel G et al (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immun 131: 1611-1623.
2. Vargas-Hernandez A et al (2018) Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. J Allergy Clin Immun 141: 2142-2155
3. Yamazaki Y et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J Immun 193: 4880-4887