Evidence map›Paper›PMID 24596025›Full record

ArticleJournal of clinical immunology2014

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.

Laila Ait Baba, Fatima Ailal, Naima El Hafidi, Marjorie Hubeau, Fabienne Jabot-Hanin, Noufissa Benajiba, Zahra Aadam, Francesca Conti, Caroline Deswarte, Leila Jeddane and 13 more

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Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

9 citing papers in PubMed, 22 citations in OpenAlex.

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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

23 authors at 7 institutions in 3 countries.

Laila Ait BabaLaboratory of Biology and Health URAC34-Metabolic and Immunologic pathology Research Team, Faculty of Science of Ben M'sik, King Hassan II University, Casablanca, Morocco.
Fatima Ailal
Naima El Hafidi
Marjorie Hubeau
Fabienne Jabot-Hanin
Noufissa Benajiba
Zahra Aadam
Francesca Conti
Caroline Deswarte
Leila Jeddane
Ayoub Aglaguel
Ouafaa El Maataoui
Ahmed Tissent
Chafiq Mahraoui
Jilali Najib
Ruben Martinez-Barricarte
Laurent Abel
Norddine Habti
Rachid Saile
Jean-Laurent Casanova
Jacinta Bustamante
Hanane Salih Alj
Ahmed Aziz Bousfiha
University of Hassan II Casablanca · MAInserm · FRDélégation Paris 5 · FRUniversité Paris Cité · FRMohamed I University · MAMohammed V University · MARockefeller University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeChronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life onwards. From 2009 to 2013, 12 cases of CGD were diagnosed in Morocco. We describe here these Moroccan cases of CGD.

methodsWe investigated the genetic, immunological and clinical features of 12 Moroccan patients with CGD from 10 unrelated kindreds.

resultsAll patients were children suffering from recurrent bacterial and/or fungal infections. All cases displayed impaired NADPH oxidase activity in nitroblue tetrazolium (NBT), dihydrorhodamine (DHR) or 2',7' dichlorofluorescein diacetate (DCFH-DA) assays. Mutation analysis revealed the presence of four different mutations of CYBB in four kindreds, a recurrent mutation of NCF1 in three kindreds, and a new mutation of NCF2 in three patients from a single kindred. A large deletion of CYBB gene has detected in a patient. The causal mutation in the remaining one kindred was not identified.

conclusionThe clinical features and infectious agents found in these patients were similar to those in CGD patients from elsewhere. The results of mutation analysis differed between kindreds, revealing a high level of genetic and allelic heterogeneity among Moroccan CGD patients. The small number of patients in our cohort probably reflects a lack of awareness of physicians. Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of CGD patients in Morocco.

Indexed as

AdolescentAllelesAspergillosisBacterial InfectionsChildChild, PreschoolDNA Mutational AnalysisFemaleGenes, RecessiveGranulomatous Disease, ChronicHumansInfantInfant, NewbornMaleMembrane GlycoproteinsMutationCYBB protein, humanMembrane GlycoproteinsNADPH Oxidase 2NADPH OxidasesNCF2 protein, humanneutrophil cytosolic factor 1

Identifiers

PMID24596025
OpenAlexW2006498638

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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.