Inflammatory and infectious manifestations of immunodeficiency in the gastrointestinal tract

Abstract

Immune compromise may result from genetic abnormalities, HIV/AIDS, or consequences of therapy for neoplastic and autoimmune diseases. Many immunocompromised patients develop severe gastrointestinal symptoms, particularly diarrhea, accompanied by non-specific or mild endoscopic abnormalities; mucosal biopsy with pathologic interpretation has a major role in the diagnosis and management of these patients. Immunocompromised individuals are at risk for all the diseases that affect those with a healthy immune system, but they are also prone to other illnesses that rarely affect immunocompetent patients. This review discusses the gastrointestinal manifestations of primary and acquired immunodeficiency, chemotherapy-related injury, and infections that show a predilection for immunocompromised patients. Key histologic features and relevant differential diagnoses are emphasized.

Educational Case: Ischemic Disorders of the Gut in Adult Patients

“…Nuclear inclusions are amphophilic and surrounded by a clear zone, resulting in an “owl’s eye” appearance, whereas cytoplasmic inclusions are granular and eosinophilic (Figure 4). 23 Cytomegalovirus vasculitis is an uncommon cause of segmental ischemia. Cytomegalovirus vasculitis features neutrophil-rich vessel wall inflammation, characteristic inclusions in endothelial cells, and luminal narrowing.…”

Educational Case: Immune-Related Disorders of the Bowel

“…13 Patients with common variable immunodeficiency have markedly decreased levels of circulating immunoglobulins, and biopsy samples throughout the gastrointestinal tract may display a decrease or absence of plasma cells. 14 Autoimmune enteropathy is more common in young males who may have circulating autoantibodies to goblet cells or parietal cells. Biopsy samples may also display loss of goblet cells or parietal cells.…”

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

“…CVID can also manifest with pernicious anemia. 5 , 9 , 47 , 48 Aplastic anemia is reported as a rare finding in XLP. 49 Patients with Shwachman–Diamond syndrome (SDS) can present with macrocytic or normocytic anemia.…”

“… 17 , 53 IPEX and SDS can manifest thrombocytopenia. 5 , 50 Micro thrombocytopenia is seen in WAS. 54 Idiopathic thrombocytopenic purpura (ITP) is reported in CHH, CVID, and DGS.…”

“…Clinical presentations can range from asymptomatic (identified by newborn screening or family genetic test) to severe immunological defects and sometimes manifestations in nonimmune organs. 4 , 5 Patients are often underdiagnosed because of overlapping signs and symptoms with a high degree of incomplete penetrance, pleiotropy, and epistasis due to different IEI genetic defects. Moreover, many cases with severe forms of the disorder may die due to complications before being assessed.…”