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1. Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

Author

Lina Basel-Vanagaite, Smadar Avigad, L. Hayman-Manzur, M. Weisz Hubshman, K. Shichrur, D. Gaash, Jerry Stein, A. Villa, O. Konen, Ellen Taub, C. Sobacchi, Ben-Zion Garty, Irina Lagovsky, Idit Maya, A. Krauss, Pola Smirin-Yosef, I. Yaniv, Daphna Marom, Mordechai Shohat, and Yael Levy

Subjects
0301 basic medicine, Severe combined immunodeficiency, Mutation, Cellular differentiation, T cell, Osteopetrosis, Biology, medicine.disease, medicine.disease_cause, Recombination-activating gene, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Immune system, Osteoclast, 030220 oncology & carcinogenesis, Immunology, Genetics, medicine, Cancer research, Genetics (clinical)
Abstract

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease.

Published
2017
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2. Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis

Author

M, Weisz Hubshman, L, Basel-Vanagaite, A, Krauss, O, Konen, Y, Levy, B Z, Garty, P, Smirin-Yosef, I, Maya, I, Lagovsky, E, Taub, D, Marom, D, Gaash, K, Shichrur, S, Avigad, L, Hayman-Manzur, A, Villa, C, Sobacchi, M, Shohat, I, Yaniv, and J, Stein

Subjects
Homeodomain Proteins, Male, TNF Receptor-Associated Factor 6, Homozygote, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Receptors, Antigen, T-Cell, Infant, Nuclear Proteins, Osteoclasts, Cell Differentiation, DNA-Binding Proteins, Osteopetrosis, Mutation, Humans, Female, Genetic Predisposition to Disease, Severe Combined Immunodeficiency, 5' Untranslated Regions, Sequence Deletion, Signal Transduction
Abstract

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease.

Published
2016

3. Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Author

Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, and Stein J

Subjects
5' Untranslated Regions genetics, Cell Differentiation genetics, Female, Genetic Predisposition to Disease, Homozygote, Humans, Infant, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Male, Mutation, Osteoclasts metabolism, Osteopetrosis pathology, Receptors, Antigen, T-Cell genetics, Sequence Deletion genetics, Severe Combined Immunodeficiency pathology, Signal Transduction genetics, DNA-Binding Proteins genetics, Homeodomain Proteins genetics, Nuclear Proteins genetics, Osteopetrosis genetics, Severe Combined Immunodeficiency genetics, TNF Receptor-Associated Factor 6 genetics
Abstract

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2017
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