Nomenclature for Factors of the HLA System, 1996

Bodmer, Julia G.; Marsh, Steven G.E.; Albert, E. D.; Bodmer, Walter F.; Bontrop, Ronald E.; Charron, Dominique; Dupont, Bo; Erlich, Henry A.; Fauchet, R.; Mach, Bernard; Mayr, Wolfgang R.; Parham, Peter; Sasazuki, Takehiko; Schreuder, G. M. T.; Strominger, Jack L.; Svejgaard, A.; Terasaki, Paul I.

doi:10.1046/j.1423-0410.1997.7320105.x

Cited by 17 publications

(11 citation statements)

References 136 publications

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“…In an attempt to describe the wide range of severity of infection in individual patients, we divided the 40 patients into 4 groups. One group (n = 10) consisted of patients (Patients 1, 8,9,10,18,20,31,32,33,38), who had a history of minor infections including recurrent otitis media, sinusitis, throat infections, and infections of the respiratory tract. A second group of patients (n = 7) (Patients 2, 3, 14, 19, 23, 27, 30) had documented minor infections and at least 1 episode of pneumonia.…”

Section: Infectionsmentioning

confidence: 99%

“…C2D type I is characterized by the absence of detectable C2 synthesis, while C2D type II is caused by a selective block of C2 secretion. The main cause of C2D type I is a 28-bp deletion in the C2 gene of the human leukocyte antigen-B*18,S042,DRB1*15 MHC haplotype 10,34 . This mutation is thought to account for more than 90% of all C2D cases.…”

Section: Introductionmentioning

confidence: 99%

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Hereditary C2 Deficiency in Sweden

et al. 2005

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Although frequently asymptomatic, homozygous C2 deficiency (C2D) is known to be associated with severe infections and rheumatic disease. We describe the clinical findings in 40 persons with C2D from 33 families identified in Sweden over 25 years. Medical records covering 96% of the accumulated person-years were reviewed, giving a mean observation time of 39 years (range, 1-77 yr). Severe infection was the predominant clinical manifestation in the cohort: 23 patients had a past history of invasive infections, mainly septicemia or meningitis caused by Streptococcus pneumoniae, and 12 patients had repeated infections of this kind. Nineteen patients had at least 1 episode of pneumonia, and recurrent pneumonia was documented in 10 patients. Repeated infections occurred mainly during infancy and childhood. Systemic lupus erythematosus was found in 10 patients. Another 7 patients had undifferentiated connective tissue disease (n = 4) or vasculitis (n = 3). We found no correlation between susceptibility to invasive infection and rheumatologic disease. Cardiovascular disease occurred at a high rate, with a total of 10 acute myocardial infarctions and 5 cerebrovascular episodes in 6 patients. Causes of death among the C2D patients were infection (n = 5), acute myocardial infarction (n = 3), and cancer (n = 1). We suggest that severe infection may be the principal clinical manifestation of C2D. We also provide novel evidence for a possible role of C2D in the development of atherosclerosis consistent with findings in mannan-binding deficiency and experimental C3 deficiency. In addition, we confirm the well-known association between C2D and systemic lupus erythematosus.

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Section: Infectionsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hereditary C2 Deficiency in Sweden

et al. 2005

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“…The odds ratio for the disease was calculated according to the method of Svejgaard et al 7 HLA-DM allele nomenclature followed the systems of the World Health Organization Nomenclature Committee HLA 1996. 8…”

Section: Methodsmentioning

confidence: 99%

Polymorphisms of HLA-DM genes in Japanese patients with psoriasis vulgaris

et al. 1999

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We analysed the polymorphisms of HLA-DM genes in 85 unrelated Japanese patients with psoriasis vulgaris and 52 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism method. The frequency of DMA*0101 was decreased (79% vs. 89%, P < 0.05) and that of DMA*0102 was increased (20% vs. 11%, P < 0.05) in the patients. However, neither of these remained significant after P-values were corrected for the number of comparisons made (Pc > 0.05). As we reported previously, HLA-C molecules are assumed to play a more important part than HLA-DM genes in the development of psoriasis vulgaris.

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“…Furthermore, 118 ICA + patients (71 Italian and 47 English) were tested for HLA-DRB1, HLA-DQA1, and HLA-DQB1 alleles and were designated according to 1996 nomenclature. 8 Genomic DNA was isolated from EDTA anticoagulated fresh frozen blood (peripheral blood cells) by ultrafast genomic DNA minipreparation (Micromix from Talent). The purified genomic DNA was then used for the Sequence Specific Primer (SSP)-PCR (BAG) technique.…”

Section: Patientsmentioning

confidence: 99%

The Number of Markers of Pancreatic Autoimmunity Is Proportional to the Risk for Type 1 Diabetes Mellitus in Italian and English Patients with Organ‐Specific Autoimmune Diseases

Betterle¹,

Spadaccino²,

Presotto³

et al. 2002

Annals of the New York Academy of Sciences

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An 11‐year prospective study was carried out in 226 patients with organ‐specific autoimmune disease (OSAD) coming from northern Italy and southern England. Patients were investigated for diabetes‐related autoantibodies (ICAs, GADAbs, and IA2Abs) in order to evaluate the best immunological combination in predicting type 1 DM. One hundred twenty‐eight patients were ICA positive (77 Italian and 51 English), and 98 were ICA negative. ICAs were detected by immunofluorescence technique on human pancreas, whereas GADAbs and IA2Abs were found by immunoprecipitation assay. During follow‐up, 33 of 128 (25.8%) ICA+ (26% of Italian and 25.5% of English) and 2 of 98 (2%) ICA− patients developed type 1 DM (17 with acute‐onset, and 18 with non‐acute‐onset disease). Among ICA+ patients, three subgroups were considered: ICA+ alone; ICA and GADAb+; ICA, GADAb, and IA2Ab+. Patients who were only ICA+ had a predictive value for type 1 DM of 4.7%, with an annual incidence of 0.7%, and a cumulative risk of 6%. ICA and GADAb+ patients had a predictive value of 17.5%, with an annual incidence of 2%, and a cumulative risk of 20%. ICA, GADAb, and IA2Ab+ patients had a predictive value of 72, with an annual incidence of 13%, and a cumulative risk of 87%. Patients having three immunological markers revealed a prevalence increased in HLA‐DR3 and/or ‐DR4, but reduced in HLA‐DR2 haplotypes. The risk for type 1 DM increased proportionally with the number of diabetes‐related antibodies, which were also related to the presence of genetic markers of disease susceptibility.

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Nomenclature for Factors of the HLA System, 1996

Cited by 17 publications

References 136 publications

Hereditary C2 Deficiency in Sweden

Hereditary C2 Deficiency in Sweden

Polymorphisms of HLA-DM genes in Japanese patients with psoriasis vulgaris

The Number of Markers of Pancreatic Autoimmunity Is Proportional to the Risk for Type 1 Diabetes Mellitus in Italian and English Patients with Organ‐Specific Autoimmune Diseases

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