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CTLA4 DEFICIENCY

 
 CVID

 

 

 

 

CVID - Patients are at risk for developing a number of GI tract pathologies including lymphoid nodular hyperplasia and inflammatory bowel disease. An enteropathy with villous blunting (resembling celiac disease) may be present but does not respond to dietary gluten removal. The risk of developing GI tract malignancies (lymphoma, adenocarcinoma) is increased 50 fold.y.  

CVID
Chronic Granulomatous Disease
Leukocyte Adhesion Deficiency
Chromosome 22q11.2 Deletion
CVID

 
  CTLA4 Deficiency

 

 

CTLA4 Deficiency -  patients develop multi-organ autoimmune manifestations including inflammatory bowel disease, autoimmune cytopenia, psoriasis, and thyroid disease. Patients also develop splenomegaly, hepatomegaly, bronchiectasis, GLILD, and generalized lymphadenopathy.

 

 

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