Evidence map›Paper›PMID 16328471›Full record

ArticleHuman genetics2006

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Alejandro A Schäffer, Jessica Pfannstiel, A David B Webster, Alessandro Plebani, Lennart Hammarström, Bodo Grimbacher

Open access · greenAbstract read
In one paragraph

Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 2 pooled it
1.0field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Common variable immunodeficiency: an update.Arthritis research & therapy · 2012
    Review
  6. Article
  7. Perspectives on common variable immune deficiency.Annals of the New York Academy of Sciences · 2011
    Review
  8. Article
  9. Article
  10. Review
  11. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.The journal of allergy and clinical immunology. In practice
    Article
  12. Avicenna journal of medical biotechnology
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 5 countries.

Alejandro A SchäfferDepartment of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A/Rm. 6S608; 8600 Rockville Pike, Bethesda, MD 20894, USA. schaffer@helix.nih.gov
Jessica Pfannstiel
A David B Webster
Alessandro Plebani
Lennart Hammarström
Bodo Grimbacher
University of Freiburg · DEKarolinska Institutet · SENational Institutes of Health · USThe Royal Free Hospital · GBUniversity of Brescia · IT

Funding

Case Studies In GeneticsZ01LM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2002 to 2008
$452k
Intramural NIH HHSNLM NIH HHS Z01 LM000097-04
6 · The paper itself

Abstract

Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vorechovský et al. (Am J Hum Genet 64:1096-1109, 1999; J Immunol 164:4408-4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at theta=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with alpha=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001).

Indexed as

Chromosomes, Human, Pair 16Genetic LinkageChromosome MappingCommon Variable ImmunodeficiencyFamilyHumansIgA DeficiencyLod Score

Identifiers

PMID16328471
PMCPMC1385708
OpenAlexW2085019811

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.