Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles.

Eric M Rosenbaum, Elisabeth Chapaton-Rivard, Colleen Overdorf

Open access · hybridAbstract readCase Reports

In one paragraph

Article in Spartan medical research journal, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact, top 75% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

Human Genetic Analysis Reveals Circulating Alpha-1 Antitrypsin Level as a Protective Factor in Sepsis.medRxiv : the preprint server for health sciences · 2026
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

3 authors at 1 institution in 1 country.

Eric M RosenbaumGenesys Regional Medical Center, Internal Medicine PGY-3 Resident, Grand Blanc MI.

Elisabeth Chapaton-RivardGenesys Regional Medical Center, Pulmonology and Critical Care Physician Grand Blanc, MI.

Colleen OverdorfFormer Pulmonology and Critical Care Fellow at Genesys Regional Medical Center; currently practicing at Providence St Peter's Hospital in Olympia, Washington.

Genesys Regional Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a disorder that can lead to early onset lung and liver disease and is considered to be underdiagnosed. The purpose of this paper is to demonstrate the importance of early detection using genotyping of AATD by presenting two very rare cases of this disorder and to remind clinicians to maintain a high level of suspicion for this disorder. Two unrelated patients presented to different pulmonology offices in Grand Blanc, MI and were screened for AATD for different reasons. Testing for both patients included alpha-1 antitrypsin enzyme levels, phenotyping, and genotyping. Both individuals were heterozygotes for S allele and Q0Clayton allele. The Q0Clayton allele is a very rare Null allele that is defined this way because these individuals do not produce any alpha-1 antitrypsin. These cases highlight the need for early testing of patients with risk factors for AATD. Also demonstrated is the need to include genotype testing to accurately identify the risk of developing emphysema and cirrhosis. Lower morbidity and mortality may result if AATD is detected early.

Indexed as

alpha-one antitrypsinclaytonemphysemanull allele

Identifiers

PMID33655122

PMCPMC7746044

OpenAlexW3132723405

What OpenQuestion holds

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LicenceCC BY

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Registered trials

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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.