XLA-associated Neutropenia Treatment

Jacobs, Zachary; Guajardo, Jesus R.; Anderson, Katherine M.

doi:10.1097/mph.0b013e3181758947

Cited by 25 publications

(6 citation statements)

References 21 publications

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“…In Africa, diarrhea was more common than in European cohorts with nearly half of the patients with chronic diarrhea 8 . Less frequently reported complications of XLA include neutropenia, usually with Pseudomonas infection at the time of diagnosis, and the devastating enteroviral meningoencephalitis 20, 21. Some manifestations may be associated with delay in diagnosis, however, differences in infection pattern may also be related to regional variation in exposure 22 .…”

Section: Introductionmentioning

confidence: 99%

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

El-Sayed¹,

Abramova²,

Becerra³

et al. 2019

World Allergy Organization Journal

100

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Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features. Methods: A survey instrument was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to collect both structured and semi-structured data on X-linked agammaglobulinemia. The survey was sent to 54 centers around the world chosen on the basis of World Allergy Organization participation and/or registration in the European Society for Immunodeficiencies. There were 40 centers that responded, comprising 32 countries. Results: This study reports on 783 patients from 40 centers around the world. Problems with diagnosis are highlighted by the reported delays in diagnosis>24 months in 34% of patients and the lack of genetic studies in 39% of centers Two infections exhibited regional variation. Vaccine-associated paralytic poliomyelitis was seen only in countries with live polio vaccination and two centers reported mycobacteria. High rates of morbidity were reported. Acute and chronic lung diseases accounted for 41% of the deaths. Unusual complications such as inflammatory bowel disease and large granular lymphocyte disease, among others were specifically enumerated, and while individually uncommon, they were collectively seen in 20.3% of patients. These data suggest that a broad range of both inflammatory, infectious, and autoimmune conditions can occur in patients. The breadth of complications and lack of data on management subsequently appeared as a significant challenge reported by centers. Survival above 20 years of age was lowest in Africa (22%) and reached above 70% in Australia, Europe and the Americas. Centers were asked to report their challenges and responses (n ¼ 116) emphasized the difficulties in access to immunoglobulin products (16%) and reflected the ongoing need for education of both patients and referring physicians. Conclusions: This is the largest study of patients with X-linked agammaglobulinemia and emphasizes the continued morbidity and mortality of XLA despite progress in diagnosis and treatment. It presents a world view of the successes and challenges for patients and physicians alike. A pivotal finding is the need for education of physicians regarding typical symptoms suggesting a possible diagnosis of X-linked agammaglobulinemia and sharing of best practices for the less common complications.

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Section: Introductionmentioning

confidence: 99%

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

El-Sayed¹,

Abramova²,

Becerra³

et al. 2019

World Allergy Organization Journal

100

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“…While many PIDDs, in particular common variable immune deficiency (CVID), chronic granulomatous disease (CGD), Wiskott Aldrich Syndrome (WAS), Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome (IPEX), and the Hyper IgM Syndromes, are often associated with a variety of autoimmune conditions and/or formation of autoantibodies [5, 6], subjects with XLA, on adequate immunoglobulin replacement, are generally considered to be spared these inflammatory conditions and have a good quality of life [7]. Patients with XLA, especially at the time of diagnosis and in association with acute infections, may have neutropenia; however, overall, other cytopenias have not been reported and the neutropenia is not thought to be autoimmune in nature [8]. Early reports of arthritis in XLA patients are now often ascribed to mycoplasma or other infections, likely due to insufficient immune globulin treatment [3, 9, 10].…”

Section: Introductionmentioning

confidence: 99%

Autoimmunity and Inflammation in X-linked Agammaglobulinemia

et al. 2014

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Purpose In the past, XLA was described as associated with several inflammatory conditions, but with adequate immune globulin treatment, these are presumed to have diminished. The actual prevalence is not known. Methods A web-based patient survey was conducted December 2011- February 2012. Respondents were recruited from the Immune Deficiency Foundation (IDF) patient database, online patient discussion forums and physician recruitment of patients. The questionnaire was developed jointly by IDF and by members of the USIDNET-XLA Disease Specific Working Group. Information regarding inflammatory conditions in patients with XLA was also obtained from the United States Immune Deficiency Network (USIDNET) Registry. Results Based on 128 unique patient survey responses, the majority of respondents (69 %) reported having at least one inflammatory symptom, with 53 % reporting multiple symptoms. However, only 28 % had actually been formally diagnosed with an inflammatory condition. Although 20 % reported painful joints and 11 % reported swelling of the joints, only 7 % were given a diagnosis of arthritis. Similarly, 21 % reported symptoms of chronic diarrhea and 17 % reported abdominal pain, however only 4 % had been diagnosed with Crohn’s disease. Data from the USIDNET Registry on 149 patients with XLA, revealed that 12 % had pain, swelling or arthralgias, while 18 % had been diagnosed with arthritis. Similarly, 7 % of these patients had abdominal pain and 9 % chronic diarrhea. Conclusions Although patients with XLA are generally considered to have a low risk of autoimmune or inflammatory disease compared to other PIDD cohorts, data from this patient survey and a national registry indicate that a significant proportion of patients with XLA have symptoms that are consistent with a diagnosis of arthritis, inflammatory bowel disease or other inflammatory condition. Documented diagnoses of inflammatory diseases were less common but still increased over the general population. Additional data is required to begin implementation of careful monitoring of patients with XLA for these conditions. Early diagnosis and proper treatment may optimize clinical outcomes for these patients.

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“…Although patients with XLA are generally considered to have a low risk of autoimmune or inflammatory diseases compared with other PID patients, evidence from survey studies suggests that some XLA patients show symptoms with similar diagnostic features to RA, IBD, or other conditions, including alopecia, enteropathy, AIHA, ITP, neutropenia, and Kawasaki disease [55,56,57]. It has been reported that 21% of XLA patients show symptoms of chronic diarrhea; however only 4% of them are diagnosed with Crohn's disease [56].…”

Section: Autoimmunity In Padsmentioning

confidence: 99%

Autoimmunity in Primary Antibody Deficiencies

Azizi¹,

Ahmadi²,

Abolhassani³

et al. 2016

Int Arch Allergy Immunol

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Primary antibody deficiencies (PADs) are the most common inherited primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, an inability to produce specific antibodies, and recurrent infections mainly caused by encapsulated bacteria. However, it has been shown that inflammatory disorders, granulomatous lesions, lymphoproliferative diseases, cancer, and autoimmunity are associated with the various types of PAD. Both systemic and organ-specific autoimmune diseases could be attributed to B-cell defects in PAD patients. Immune thrombocytopenic purpura and autoimmune hemolytic anemia are the most common autoimmune disorders in this group of patients. The aim of this review is to describe the proposed mechanisms for autoimmunity and to review the literature with respect to the reported autoimmune disorders in each type of PAD.

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XLA-associated Neutropenia Treatment

Cited by 25 publications

References 21 publications

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

Autoimmunity and Inflammation in X-linked Agammaglobulinemia

Autoimmunity in Primary Antibody Deficiencies

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