Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis

doi:10.1016/S0022-3476(95)70024-2

The Journal of Pediatrics

Volume 127, Issue 6, December 1995, Pages 895-900

https://doi.org/10.1016/S0022-3476(95)70024-2 Get rights and content

Abstract

Two siblings with pansinusitis, nasal polyps, and bronchiectasis were found to have histocompatibility lymphocyte antigen (HLA) class I antigen deficiency (“bare lymphocyte syndrome”) and dysfunction of natural killer cells. Reduced class I cell surface expression resulted from a single mutation in the TAP2 gene, which is located in the class II region of the major histocompatibility complex and encodes subunit 2 of the class I peptide transporter. The defect was transmitted in an autosomal recessive manner. This deficiency did not lead to severe viral infections but was apparently associated with susceptibility to bacterial infections of the respiratory mucosae. We suggest that class I HLA typing should be systematically performed in children with unexplained bronchiectasis. (J PEDIATR 1995;127:895-900)

Section snippets

CASE REPORTS

The two patients were from a family originating from Morocco. The parents, who are first cousins, are healthy nonsmokers, as are their parents. All five children are alive, and the second and fifth are healthy, but the first child has chronic lung disease, the third albinism and blindness, and the fourth has albinism, blindness, and chronic lung disease.

Patient 1 was a 17-year-old girl. Immunizations against diphtheria, tetanus, pertussis, poliomyelitis, and tuberculosis were performed during

DISCUSSION

The lack of HLA class I antigen expression, or the so-called type I bare lymphocyte syndrome, was first described in 1978,9, 10 and the absence of HLA class II molecules, or type II bare lymphocyte syndrome, was later reported in a number of patients.11, 12 This latter syndrome is linked to a major immunodeficiency leading to severe infections early in life; bone marrow transplantation has been proposed in such cases. Clinical manifestations of HLA class I deficiency, however, seem to be

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^☆: From the Departments of Pediatrics and Pneumology and Pulmonary Functional Testing, University Hospital of Strasbourg, and from the Histocompatibility Laboratory, Blood Transfusion Center of Strasbourg, Strasbourg, France

^☆☆: Supported by the Institut National de la Santé et de la Recherche Médicale (CJF INSERM 94-03) and the Etablissement de Transfusion Sanguine de Strasbourg.

^★: Reprint requests: Lionel Donato, MD, Service de Pédiatrie 2, Hôpital de Hautepierre, Avenue Molière, 67098 Strasbourg, France.

^★★: 0022-3476/95/$5.00 + 0 9/20/68307

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Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis☆,☆☆,★,★★

Abstract

Section snippets

CASE REPORTS

DISCUSSION

J PEDIATR

Clin Immunol Immunopathol

Hum Immunol

J Am Acad Dermatol

Bronchiectasis: update of an orphan disease

Am Rev Respir Dis

The biochemistry and cell biology of antigen processing and presentation

Annu Rev Immunol

Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region

Proc Natl Acad Sci USA

Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex

Nature

Homozygous human TAP peptide transporter mutation in HLA class I deficiency

Science