Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening.

Soomann, Maarja; Prader, Seraina; Lorenzini, Tiziana; Soulard, Clara; Sayasith, Khampoun; Haddad, Elie; Pachlopnik Schmid, Jana

Soomann, Maarja; Prader, Seraina; Lorenzini, Tiziana; Soulard, Clara; Sayasith, Khampoun; Haddad, Elie; Pachlopnik Schmid, Jana.

Affiliation

Soomann M; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland. Electronic address: Maarja.Soomann@kispi.uzh.ch.
Prader S; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland.
Lorenzini T; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland.
Soulard C; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada; Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, Montreal, Quebec, Canada.
Sayasith K; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Haddad E; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada; Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, Montreal, Quebec, Canada; Research Center, Centre hospitalier universitaire (CHU) Sainte-Justine (CHU), Montreal, Quebec, Canada.
Pachlopnik Schmid J; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland.

J Allergy Clin Immunol Pract ; 12(8): 2199-2200.e1, 2024 Aug.

Article in En | MEDLINE | ID: mdl-38729303

Subject(s)

Chromosomes, Human, Pair 22; DiGeorge Syndrome; Lymphopenia; Neonatal Screening; T-Lymphocytes; Humans; Infant, Newborn; Lymphopenia/genetics; Lymphopenia/diagnosis; Chromosomes, Human, Pair 22/genetics; T-Lymphocytes/immunology; DiGeorge Syndrome/genetics; DiGeorge Syndrome/diagnosis; DiGeorge Syndrome/immunology; DiGeorge Syndrome/complications; Chromosome Duplication; Male; Female

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Full text: 1 Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / T-Lymphocytes / Neonatal Screening / DiGeorge Syndrome / Lymphopenia Limits: Female / Humans / Male / Newborn Language: En Year: 2024 Type: Article

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