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Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency

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dc.contributor.authorKOLUKISA, BURCU
dc.contributor.authorBARIŞ, SAFA
dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorAYDINER, ELİF
dc.contributor.authorsSefer A. P., Abolhassani H., Ober F., KAYAOĞLU B., Eltan S. B., Kara A., ERMAN B., Yilmaz N. S., Aydogmus C., Aydemir S., et al.
dc.date.accessioned2023-02-14T10:35:27Z
dc.date.available2023-02-14T10:35:27Z
dc.date.issued2022-04-01
dc.description.abstractPurpose MALT1 deficiency is a combined immune deficiency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 deficiency. Methods The clinical findings and treatment outcomes were evaluated in nine new MALT1-deficient patients. Peripheral lymphocyte subset analyses, cytokine secretion, and proliferation assays were performed. We also analyzed ten previously reported patients to comprehensively evaluate genotype/phenotype correlation. Results The mean age of patients and disease onset were 33 +/- 17 and 1.6 +/- 0.7 months, respectively. The main clinical findings of the disease were recurrent infections (100%), skin involvement (100%), failure to thrive (100%), oral lesions (67%), chronic diarrhea (56%), and autoimmunity (44%). Eosinophilia and high IgE were observed in six (67%) and two (22%) patients, respectively. The majority of patients had normal T and NK cells, while eight (89%) exhibited reduced B cells. Immunoglobulin replacement and antibiotics prophylaxis were mostly ineffective in reducing the frequency of infections and other complications. One patient received hematopoietic stem cell transplantation (HSCT) and five patients died as a complication of life-threatening infections. Analyzing this cohort with reported patients revealed overall survival in 58% (11/19), which was higher in patients who underwent HSCT (P = 0.03). Conclusion This cohort provides the largest analysis for clinical and immunological features of MALT1 deficiency. HSCT should be offered as a curative therapeutic option for all patients at the early stage of life.
dc.identifier.citationSefer A. P., Abolhassani H., Ober F., KAYAOĞLU B., Eltan S. B., Kara A., ERMAN B., Yilmaz N. S., Aydogmus C., Aydemir S., et al., "Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency", JOURNAL OF CLINICAL IMMUNOLOGY, cilt.42, sa.3, ss.634-652, 2022
dc.identifier.doi10.1007/s10875-021-01191-4
dc.identifier.endpage652
dc.identifier.issn0271-9142
dc.identifier.issue3
dc.identifier.startpage634
dc.identifier.urihttps://link.springer.com/article/10.1007/s10875-021-01191-4
dc.identifier.urihttps://hdl.handle.net/11424/286242
dc.identifier.volume42
dc.language.isoeng
dc.relation.ispartofJOURNAL OF CLINICAL IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectLife Sciences
dc.subjectNatural Sciences
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectIMMUNOLOGY
dc.subjectLife Sciences (LIFE)
dc.subjectGeneral Immunology and Microbiology
dc.subjectImmunology
dc.subjectInborn errors of immunity
dc.subjectprimary immunodeficiency
dc.subjectMALT1
dc.subjectcombined immune deficiency
dc.subjectimmune dysregulation
dc.subjectrecurrent infections
dc.subjectskin involvement
dc.subjectfailure to thrive
dc.subjecthematopoietic stem cell transplantation
dc.subjectNF-KAPPA-B
dc.subjectT-CELL
dc.subjectCOMBINED IMMUNODEFICIENCY
dc.subjectMUTATIONS
dc.subjectACTIVATION
dc.subjectCARMA1
dc.subjectROLES
dc.titleExpanding the clinical and immunological phenotypes and natural history of MALT1 deficiency
dc.typearticle
dspace.entity.typePublication
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local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
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