Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
L
L
Marquardt
Paediatric Practice, Carouge, Switzerland.
M
M
Lacour
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
M
M
Hoernes
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.|Functional Genomics Center Zurich, Zurich, Switzerland.
L
L
Opitz
Functional Genomics Center Zurich, Zurich, Switzerland.
R
R
Lecca
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
B
B
Volkmer
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
J
J
Reichenbach
Department of Dermatology, University Hospital of Lausanne, Lausanne, Switzerland.
D
D
Hohl
Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
M
M
Ansari
Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
H
H
Ozsahin
Division of Stem Cell Transplantation, University Children's Hospital Zurich, Zurich, Switzerland.
T
T
Güngör
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
J
J
Pachlopnik Schmid
D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003873:Dermatitis, Exfoliative / Q000175:diagnosis* / Q000209:etiology / Q000276:immunology; D005260:Female; D006801:Humans; D007111:Immunity, Cellular; D007223:Infant; D007231:Infant, Newborn; D053699:Interleukin-7 Receptor alpha Subunit / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D010375:Pedigree; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000073359:Exome Sequencing / Q000379:methods*
C000620371:IL7R protein, human; D053699:Interleukin-7 Receptor alpha Subunit; D004247:DNA