Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

Orpha code: 529980OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
NFAT5 haploinsufficiency
NFAT5 haploinsufficiency
ORPHA code
529980
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl