Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

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Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

Synonyms: NFAT5 haploinsufficiency

A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever accompanied by eczematous rashes due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency impaired antigen-induced lymphocyte proliferation reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

Clinical Trials

For a list of clinical trials in this disease area, please click here.