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Sefer, A.P.* ; Abolhassani, H.* ; Ober, F. ; Kayaoglu, B.* ; Bilgic Eltan, S.* ; Kara, A.* ; Erman, B.* ; Surucu Yilmaz, N.* ; Aydogmus, C.* ; Aydemir, S.* ; Charbonnier, L.M.* ; Kolukisa, B.* ; Azizi, G.* ; Delavari, S.* ; Momen, T.* ; Aliyeva, S.* ; Kendir Demirkol, Y.* ; Tekin, S.* ; Kiykim, A.* ; Baser, O.F.* ; Cokugras, H.* ; Gursel, M.* ; Karakoc-Aydiner, E.* ; Ozen, A.* ; Krappmann, D. ; Chatila, T.A.* ; Rezaei, N.* ; Baris, S.*

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

J. Clin. Immunol. 42, 634-652 (2022)
Postprint DOI PMC
Open Access Green
Purpose: 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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Combined Immune Deficiency ; Failure To Thrive ; Hematopoietic Stem Cell Transplantation ; Immune Dysregulation ; Inborn Errors Of Immunity ; Malt1 ; Primary Immunodeficiency ; Recurrent Infections ; Skin Involvement; Nf-kappa-b; T-cell; Combined Immunodeficiency; Mutations; Activation; Carma1; Roles
ISSN (print) / ISBN 0271-9142
e-ISSN 1573-2592
Journal Journal of Clinical Immunology
Quellenangaben Volume: 42, Issue: 3, Pages: 634-652 Article Number: , Supplement: ,
Publisher Springer
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Research Unit Signaling and Translation (SAT)
Grants Jonas Soderquist scholarship
Deutsche Forschungsgemeinschaft
Ake Wibergs foundation
National Institutes of Health
Scientific and Technological Research Council of Turkey