Increased frequency of HLA-B44 in recurrent sinopulmonary infections (RESPI)

Johnston, Douglas; Mehaffey, Gregory; Thomas, Jennifer; Young, K. Randall; Wiener, Howard W.; Li, Jian; Go, Rodney C.P.; Schroeder, Harry W.

doi:10.1016/j.clim.2006.02.001

Cited by 15 publications

(8 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In haplotypes, multiple gene polymorphisms probably increase disease susceptibility with other MHC genes involved in functions such as antigen presentation and cytokine production [19].…”

Section: Discussionmentioning

confidence: 99%

C4A deficiency in children and adolescents with recurrent respiratory infections

et al. 2012

View full text Add to dashboard Cite

“…In haplotypes, multiple gene polymorphisms probably increase disease susceptibility with other MHC genes involved in functions such as antigen presentation and cytokine production [19].…”

Section: Discussionmentioning

confidence: 99%

C4A deficiency in children and adolescents with recurrent respiratory infections

et al. 2012

View full text Add to dashboard Cite

“…B44 was present in almost half and was the most common susceptibility allele. 128 Genetic linkage studies in such families have found evidence of causative mutations on chromosome arms 4q 51 and 16q, 129 but disease-associated genes have not been identified.…”

Section: Geneticsmentioning

confidence: 99%

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Bonilla

Barlan

Chapel

et al. 2016

The Journal of Allergy and Clinical Immunology: In Practice

651

697

View full text Add to dashboard Cite

The International Collaboration in Asthma, Allergy and Immunology initiated an international coalition among the American Academy of Allergy, Asthma & Immunology; the European Academy of Allergy and Clinical Immunology; the World Allergy Organization; and the American College of Allergy, Asthma & Immunology on common variable immunodeficiency. An author group was formed and then divided into individual committees. Within the committee, teams of authors were subgrouped to generate content for specific sections of the document. Content was derived from literature searches, relevant published guidelines, and clinical experience. After a draft of the document was assembled, it was collectively reviewed and revised by the authors. Where evidence was lacking or conflicting, the information presented represents the consensus expert opinion of the group. The full document was then independently reviewed by 5 international experts in the field, none of whom was among the authors of the original. The comments of these reviewers were incorporated before submission for publication.

show abstract

“…We identified 63 CVID patients irrespective of HLA status and 13 RESPI patients who had inherited HLA*B44. The clinical and genetic features of these populations have been previously described [ 6 , 11 ]. The study was performed under the guidelines of the Institutional Review Board of the University of Alabama at Birmingham.…”

Section: Methodsmentioning

confidence: 99%

“…In 2005, Johnston et al studied a series of patients who had presented to our clinic with a history of sinopulmonary infections (RESPI) similar in frequency and severity to that observed in CVID, but with normal serum levels of IgM and IgA and with IgG serum levels of 600 mg/dl or greater [ 11 ]. The distribution of MHC class I alleles in this RESPI population proved similar to CVID, with almost half of the patients inheriting HLA-B44.…”

Section: Introductionmentioning

confidence: 99%

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8

2009

View full text Add to dashboard Cite

Background: Recent reports have suggested that Common Variable Immunodeficieny (CVID) can present as an autosomal dominant trait dependent on the inheritance of a set of uncommon mutations/alleles of TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) involving exons 3 or 4. Penetrance, however, appears to be incomplete. Among our clinic population, the greatest genetic linkage for CVID is to the major histocompatibility complex (MHC) on chromosome 6. The majority of our patients have inherited HLA *DQ2, *DR7, *DR3(17), *B8, and/or *B44. Of these, HLA*B44 was present in almost half of the patients and was thus the most common susceptibility allele. HLA *B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. Of 13 affected subjects, nine had inherited HLA *B8 and six had inherited HLA B44. This raised the possibility that TACI mutations might synergize with MHC class I alleles to enhance susceptibility to humoral immune deficiency.

show abstract

Increased frequency of HLA-B44 in recurrent sinopulmonary infections (RESPI)

Cited by 15 publications

References 7 publications

C4A deficiency in children and adolescents with recurrent respiratory infections

C4A deficiency in children and adolescents with recurrent respiratory infections

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8

Contact Info

Product

Resources

About

Increased frequency of HLA-B44 in recurrent sinopulmonary infections (RESPI)

Cited by 15 publications

References 7 publications

C4A deficiency in children and adolescents with recurrent respiratory infections

C4A deficiency in children and adolescents with recurrent respiratory infections

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8

Contact Info

Product

Resources

About

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8