DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Human Molecular Genetics

Volumn 24, Issue 25, 2015, Pages 7361-7372

  Volk, Timo ^a   Pannicke, Ulrich ^b   Reisli, Ismail ^c   Bulashevska, Alla ^a   Ritter, Julia ^d   Björkman, Andrea ^e   Schäffer, Alejandro A ^f   Fliegauf, Manfred ^a   Sayar, Esra H ^c   Salzer, Ulrich ^a   Fisch, Paul ^a   Pfeifer, Dietmar ^a   Di Virgilio, Michela ^g   Cao, Hongzhi ^h   Yang, Fang ^h   Zimmermann, Karin ^d   Keles, Sevgi ^c   Caliskaner, Zafer ^c   Güner, Şükrü ^c   Schindler, Detlev ⁱ   Hammarström, Lennart ^d   Rizzi, Marta ^a   Humme, Michael ^k   Pan Hammarström, Qiang ^e   Schwarz, Klaus ^b,j   Grimbacher, Bodo ^a,k   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^h BGI SHENZHEN   (China)

ⁱ UNIVERSITY OF WÜRZBURG   (Germany)

^j German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; T LYMPHOCYTE RECEPTOR; DCLRE1C PROTEIN, HUMAN; IMMUNOGLOBULIN A; NUCLEAR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; CASE REPORT; CELL CYCLE PROGRESSION; CELL MATURATION; CELLULAR IMMUNITY; CHILD; CONSANGUINITY; DCLRE1C GENE; DEVELOPMENT; DISEASE COURSE; DNA END JOINING REPAIR; DNA HAIRPIN; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; HUMAN; HUMORAL IMMUNE DEFICIENCY; IN VITRO STUDY; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; T LYMPHOCYTE; GENETICS; METABOLISM; MUTATION; SEVERE COMBINED IMMUNODEFICIENCY;

B-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; IMMUNOGLOBULIN A; MALE; MUTATION; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84959253960     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv437     Document Type: Article

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