Gastrointestinal Manifestations and Complications of Primary Immunodeficiency Disorders

https://doi.org/10.1016/j.iac.2018.08.006Get rights and content

Section snippets

Key points

  • The gastrointestinal tract mucosa is the largest immune system organ containing the majority of lymphocytes and immunoglobulins synthesized in the body.

  • There is a wide range of infectious and noninfectious GI disease associated with primary immunodeficiency that can be the presenting symptom of immunodeficiency.

  • Although symptoms of GI disease in immunodeficiency patients mimic those in immunocompetent patients, the pathologic factors and mechanism of disease are unique.

  • Failure of GI diseases to

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

First page preview

First page preview
Click to open first page preview

References (89)

  • A. Thatayatikom et al.

    Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature

    Ann Allergy Asthma Immunol

    (2005)
  • X. Xiao et al.

    Common variable immunodeficiency and autoimmunity--an inconvenient truth

    Autoimmun Rev

    (2014)
  • P.J. Mannon et al.

    Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency

    Gastroenterology

    (2006)
  • A. Magnani et al.

    Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

    J Allergy Clin Immunol

    (2014)
  • J.E. Yu et al.

    High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease

    Clin Immunol

    (2011)
  • J.R. Rosh et al.

    Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine

    J Pediatr

    (1995)
  • J. Wang et al.

    Use of GM-CSF in the treatment of colitis associated with chronic granulomatous disease

    J Allergy Clin Immunol

    (2005)
  • T. Gungor et al.

    Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

    Lancet

    (2014)
  • J.L. Stephan et al.

    Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

    J Pediatr

    (1993)
  • T.R. Torgerson et al.

    Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

    J Allergy Clin Immunol

    (2007)
  • S. Seghezzo et al.

    Persistent enteropathy in a toddler with a novel FOXP3 mutation and normal FOXP3 protein expression

    J Pediatr

    (2017)
  • S. Chandrakasan et al.

    Nonclassic inflammatory bowel disease in young infants: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and other disorders

    Pediatr Clin North Am

    (2017)
  • Z.Y. Kucuk et al.

    A challenging undertaking: stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

    J Allergy Clin Immunol

    (2016)
  • A. Rao et al.

    Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning

    Blood

    (2007)
  • C. Picard et al.

    International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity

    J Clin Immunol

    (2018)
  • F.A. Bonilla et al.

    Practice parameter for the diagnosis and management of primary immunodeficiency

    J Allergy Clin Immunol

    (2015)
  • A. Aghamohammadi et al.

    Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry

    J Clin Immunol

    (2014)
  • R. Yazdani et al.

    Selective IgA deficiency: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management

    Scand J Immunol

    (2017)
  • D. Villalta et al.

    Diagnostic accuracy of IgA anti-tissue transglutaminase antibody assays in celiac disease patients with selective IgA deficiency

    Ann N Y Acad Sci

    (2007)
  • M.A. Chow et al.

    Immunoglobulin A deficiency in celiac disease

    J Clin Gastroenterol

    (2012)
  • M.F. Heyworth et al.

    Clearance of Giardia muris infection requires helper/inducer T lymphocytes

    J Exp Med

    (1987)
  • S. Basyigit et al.

    Diffuse intestinal nodular lymphoid hyperplasia in an immunoglobulin-A-deficient patient with Helicobacter pylori infection

    Endoscopy

    (2014)
  • S.H. Mir-Madjlessi et al.

    Coexisting primary malignant lymphoma and adenocarcinoma of the large intestine in an IgA-deficient boy

    Dis Colon Rectum

    (1984)
  • J.A. Winkelstein et al.

    X-linked agammaglobulinemia: report on a United States registry of 201 patients

    Medicine (Baltimore)

    (2006)
  • S. Barmettler et al.

    Gastrointestinal manifestations in X-linked agammaglobulinemia

    J Clin Immunol

    (2017)
  • V.P. Hernandez-Trujillo et al.

    Autoimmunity and inflammation in X-linked agammaglobulinemia

    J Clin Immunol

    (2014)
  • L. Atarod et al.

    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

    (2003)
  • A.A. van de Ven et al.

    Increased prevalence of gastrointestinal viruses and diminished secretory immunoglobulin a levels in antibody deficiencies

    J Clin Immunol

    (2014)
  • M. Pac et al.

    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

    (2017)
  • P. Quartier et al.

    Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction

    Pediatr Infect Dis J

    (2000)
  • A.T. Staines Boone et al.

    Gastric adenocarcinoma in the context of X-linked agammaglobulinemia: case report and review of the literature

    J Clin Immunol

    (2014)
  • E.G. Davies et al.

    Update on the hyper immunoglobulin M syndromes

    Br J Haematol

    (2010)
  • C.L. Lucas et al.

    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

    (2014)
  • J.A. Winkelstein et al.

    The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients

    Medicine (Baltimore)

    (2003)
  • Cited by (0)

    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.

    View full text