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Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsSefer, Asena Pinar; Abolhassani, Hassan; Ober, Franziska; Kayaoglu, Basak; Eltan, Sevgi Bilgic; Kara, Altan; Erman, Baran; Yilmaz, Naz Surucu; Aydogmus, Cigdem; Aydemir, Sezin; Charbonnier, Louis-Marie; Kolukisa, Burcu; Azizi, Gholamreza; Delavari, Samaneh; Momen, Tooba; Aliyeva, Simuzar; Demirkol, Yasemin Kendir; Tekin, Saban; Kiykim, Ayca; Baser, Omer Faruk; Cokugras, Haluk; Gursel, Mayda; Karakoc-Aydiner, Elif; Ozen, Ahmet; Krappmann, Daniel; Chatila, Talal A.; Rezaei, Nima; Baris, Safa
dc.date.accessioned2022-03-23T09:35:14Z
dc.date.available2022-03-23T09:35:14Z
dc.date.issued2022
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.doi10.1007/s10875-021-01191-4
dc.identifier.eissn1573-2592
dc.identifier.issn0271-9142
dc.identifier.pubmed35079916
dc.identifier.urihttps://hdl.handle.net/11424/254647
dc.identifier.wosWOS:000746804300001
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERS
dc.relation.ispartofJOURNAL OF CLINICAL IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
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
local.avesis.idd4bed0ec-3dc0-47ab-ae49-f80a8f56d196
local.import.packageSS26
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages19
oaire.citation.titleJOURNAL OF CLINICAL IMMUNOLOGY
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication.latestForDiscovery3e9c297b-e636-4836-8f61-dc9c8b7c29cf

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