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The gastrointestinal tract mucosa is the largest immune system organ containing the majority of lymphocytes and immunoglobulins synthesized in the body.
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There is a wide range of infectious and noninfectious GI disease associated with primary immunodeficiency that can be the presenting symptom of immunodeficiency.
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Although symptoms of GI disease in immunodeficiency patients mimic those in immunocompetent patients, the pathologic factors and mechanism of disease are unique.
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Failure of GI diseases to
Gastrointestinal Manifestations and Complications of Primary Immunodeficiency Disorders
Section snippets
Key points
Summary
Although the hallmark of PIDs is increased susceptibility to infection, many are associated with and initially present with GI diseases, making routine evaluation of the gut necessary. A history of recurrent infections, clinical and/or histologic features atypical of the usual pattern of GI disease, or a poor response to conventional therapy should prompt further immunologic evaluation. Early diagnosis and treatment may prevent irreversible tissue damage and mortality. In most cases, treatment
References (89)
- et al.
Selective immunoglobulin A deficiency associated with modular lymphoid hyperplasia
J Allergy Clin Immunol
(1979) - et al.
Nodular lymphoid hyperplasia complicated with ileal Burkitt's lymphoma in an adult patient with selective IgA deficiency
Int J Surg Case Rep
(2017) - et al.
Colorectal cancer in patients with X-linked agammaglobulinaemia
Lancet
(1993) - et al.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
Am J Hum Genet
(2000) - et al.
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency
Clin Immunol
(2004) - et al.
Liver disease predicts mortality in patients with X-linked immunodeficiency with hyper-IgM but can be prevented by early hematopoietic stem cell transplantation
J Allergy Clin Immunol
(2018) - et al.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
J Allergy Clin Immunol
(2017) - et al.
International Consensus Document (ICON): common variable immunodeficiency disorders
J Allergy Clin Immunol Pract
(2016) - et al.
Morbidity and mortality in common variable immune deficiency over 4 decades
Blood
(2012) - et al.
Hepatitis in common variable immunodeficiency
Hum Pathol
(2009)
Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature
Ann Allergy Asthma Immunol
Common variable immunodeficiency and autoimmunity--an inconvenient truth
Autoimmun Rev
Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency
Gastroenterology
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease
J Allergy Clin Immunol
High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease
Clin Immunol
Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine
J Pediatr
Use of GM-CSF in the treatment of colitis associated with chronic granulomatous disease
J Allergy Clin Immunol
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
Lancet
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients
J Pediatr
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells
J Allergy Clin Immunol
Persistent enteropathy in a toddler with a novel FOXP3 mutation and normal FOXP3 protein expression
J Pediatr
Nonclassic inflammatory bowel disease in young infants: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and other disorders
Pediatr Clin North Am
A challenging undertaking: stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome
J Allergy Clin Immunol
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
Blood
International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity
J Clin Immunol
Practice parameter for the diagnosis and management of primary immunodeficiency
J Allergy Clin Immunol
Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry
J Clin Immunol
Selective IgA deficiency: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management
Scand J Immunol
Diagnostic accuracy of IgA anti-tissue transglutaminase antibody assays in celiac disease patients with selective IgA deficiency
Ann N Y Acad Sci
Immunoglobulin A deficiency in celiac disease
J Clin Gastroenterol
Clearance of Giardia muris infection requires helper/inducer T lymphocytes
J Exp Med
Diffuse intestinal nodular lymphoid hyperplasia in an immunoglobulin-A-deficient patient with Helicobacter pylori infection
Endoscopy
Coexisting primary malignant lymphoma and adenocarcinoma of the large intestine in an IgA-deficient boy
Dis Colon Rectum
X-linked agammaglobulinemia: report on a United States registry of 201 patients
Medicine (Baltimore)
Gastrointestinal manifestations in X-linked agammaglobulinemia
J Clin Immunol
Autoimmunity and inflammation in X-linked agammaglobulinemia
J Clin Immunol
A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990-2000), in children hospital medical center
Iran J Allergy Asthma Immunol
Increased prevalence of gastrointestinal viruses and diminished secretory immunoglobulin a levels in antibody deficiencies
J Clin Immunol
Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center
Arch Med Sci
Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction
Pediatr Infect Dis J
Gastric adenocarcinoma in the context of X-linked agammaglobulinemia: case report and review of the literature
J Clin Immunol
Update on the hyper immunoglobulin M syndromes
Br J Haematol
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency
Nat Immunol
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
Medicine (Baltimore)
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2021, Emergency Medicine Clinics of North AmericaCitation Excerpt :The most common congenital immunodeficiencies and their associated complications that may lead to the presenting symptom of abdominal pain can be found in Fig. 1. Diarrhea and malabsorption are particularly common in this subset of patients.22 Although mucositis, neutropenic enterocolitis, and structural causes (obstruction, intussusception, perforation) of abdominal pain can be seen in other immunocompromised states, they are particularly common in the setting of malignancy.
Disclosure Statement: Funding for this study was provided by the National Institutes of Health grants, AI-061093, AI-086037, AI-48693, and David S. Gottesman Immunology Chair at the Icahn School of Medicine at Mount Sinai.