Evidence map›Paper›PMID 41346588›Full record

ArticleFrontiers in immunology2025

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Asena Pinar Sefer, Mehmet Cihangir Catak, Isa An, Necmiye Keser Ozturk, Leyla Baykal Selcuk, Oguz Salih Dincer, Mehdi Benamar, Feven Getachew, Klaus Schmitz-Abe, Pankaj B Agrawal and 7 more

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Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

17 authors.

Asena Pinar SeferDivision of Allergy and Immunology, Department of Pediatrics, School of Medicine, Recep Tayyip Erdogan University, Rize, Türkiye.
Mehmet Cihangir CatakDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Isa AnDepartment of Dermatology, Sanliurfa Research and Training Hospital, Sanliurfa, Türkiye.
Necmiye Keser OzturkDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Leyla Baykal SelcukDepartment of Dermatology, School of Medicine, Karadeniz Technical University, Trabzon, Türkiye.
Oguz Salih DincerDivision of Hematology and Oncology, Department of Pediatrics, School of Medicine, Recep Tayyip Erdogan University, Rize, Türkiye.
Mehdi BenamarDivision of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.
Feven GetachewDivision of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.
Klaus Schmitz-AbeDivision of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.
Pankaj B AgrawalDivision of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, United States.
Feyza Bayram CatakDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Baran ErmanInstitute of Child Health, Hacettepe University, Ankara, Türkiye.
Sevgi Bilgic EltanDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Elif Karakoc AydinerDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Ahmet OzenDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.
Talal ChatilaDivision of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.
Safa BarisDepartment of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Pathogenic variants in Objectives: We aimed to broaden the dermatologic and immunologic spectrum of ALOX12B-associated ARCI by characterizing the clinical, immunologic, and genetic features of six patients from three consanguineous families. Methods: This prospective study included six patients with ALOX12B-associated ARCI identified through whole-exome sequencing. Detailed dermatological evaluations, infection histories, immunoglobulin profiles, lymphocyte subset analyses, and vaccine response assessments were performed. Results: All patients exhibited early-onset generalized ichthyosis, ranging from delayed-onset lamellar ichthyosis to collodion membrane presentations accompanied by nonbullous erythroderma. Two distinct biallelic Conclusions: Our findings suggest that ALOX12B-related ARCI may involve secondary immune dysregulation, driven by chronic compromise of the epidermal barrier. An immunologic evaluation is warranted in selected cases, particularly those with a history of susceptibility to infections. Multidisciplinary care, encompassing dermatology, immunology, and genetics, is crucial for achieving optimal outcomes in ARCI.

Indexed as

Arachidonate 12-LipoxygenaseIchthyosis, LamellarSkinChildChild, PreschoolExome SequencingFemaleHumansInfantMaleMutationPedigreeProspective StudiesALOX12B protein, humanArachidonate 12-LipoxygenaseALOX12BARCIautosomal recessive congenital ichthyosisHyper-IgEimmune dysregulationimmunodeficiency

Identifiers

PMID41346588
PMCPMC12672872

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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.