Evidence map›Paper›PMID 41376631›Full record

ArticleFrontiers in immunology2025

Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.

Aziza Bachir Kattra, Fatima Ailal, Ibtihal Benhsaien, Mohammed Fahi, Asmaa Drissi Bourhanbour, Ahamada Elamine, Zahra Aadam, Abderrahmane Errami, Ahmed Aziz Bousfiha, Jalila El Bakkouri

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Genes · 2026
    Article
  2. 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

10 authors.

Aziza Bachir KattraLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Fatima AilalLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Ibtihal BenhsaienLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Mohammed FahiLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Asmaa Drissi BourhanbourLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Ahamada ElamineLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Zahra AadamLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Abderrahmane ErramiLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Ahmed Aziz BousfihaLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.
Jalila El BakkouriLaboratory of Clinical Immunology, Infection, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca (FMPC), Hassan II University, Casablanca, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Major histocompatibility complex class II (MHC II) deficiency (bare lymphocyte syndrome type II) is an autosomal-recessive combined immunodeficiency caused by pathogenic variants in the transcriptional regulators CIITA, RFXANK, RFX5, or RFXAP. While RFXANK founder mutations predominate in North Africa, CIITA-related disease is extremely rare. We report two siblings from a consanguineous Moroccan family with the classic early-infancy phenotype. The elder sister developed recurrent febrile rashes, oral candidiasis, and locoregional BCGitis with acid-fast bacilli in granulomas, followed by progressive respiratory failure and fatal cytomegalovirus pneumonitis despite antiviral therapy; immunology showed profound CD4

Indexed as

Histocompatibility Antigens Class IIImmunologic Deficiency SyndromesMutationNuclear ProteinsTrans-ActivatorsCodon, NonsenseFemaleHumansInfantMaleMoroccoPedigreeCodon, NonsenseHistocompatibility Antigens Class IIMHC class II transactivator proteinNuclear ProteinsTrans-Activatorsbare lymphocyte syndrome (BLS)CIITA geneconsanguinityHLA-DR expressionlymphopenia CD4major histocompatibility complex class II deficiencyMorocco

Identifiers

PMID41376631
PMCPMC12685675

What OpenQuestion holds

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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.