Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Stavroula
S
Woutsas
Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Caner
C
Aytekin
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Elisabeth
E
Salzer
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Cecilia Domínguez
CD
Conde
Department of Pathology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Sema
S
Apaydin
Department of Paediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
Herbert
H
Pichler
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Nima
N
Memaran-Dadgar
Department of Pediatric Gastroenterology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Ferda Ozbay
FO
Hosnut
Division of Molecular Microbiology, Children's Cancer Research Institute, Vienna, Austria.
Elisabeth
E
Förster-Waldl
Department of Pediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
Susanne
S
Matthes
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Wolf-Dietrich
WD
Huber
Division of Molecular Microbiology, Children's Cancer Research Institute, Vienna, Austria.
Thomas
T
Lion
Department of Pediatrics, St. Anna Kinderspital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
Wolfgang
W
Holter
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Ivan
I
Bilic
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Kaan
K
Boztug
D019943:Amino Acid Substitution; D001402:B-Lymphocytes / Q000276:immunology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics; D007422:Intestines / Q000002:abnormalities*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011506:Proteins / Q000235:genetics* / Q000276:immunology; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology
D011506:Proteins; C583818:TTC7A protein, human