ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia

Background. A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. Case. A four-month-old girl sufferd from fever, restlessness, diarrhea, and poo...

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Veröffentlicht in:	Turkish journal of pediatrics 2023-07, Vol.65 (4), p.698-703
Hauptverfasser:	Deveci, Kübra, Yalnızoğlu, Dilek, Çağdaş, Deniz, Oğuz, Kader Karlı, Ertuğrul, İlker, Gülşen, Hayriye Hızarcıoğlu, Ocak, Melike, Bildik, Hacer Neslihan, Esenboğa, Saliha, Tezcan, İlhan
Format:	Artikel
Sprache:	eng
Schlagworte:	Antigens Biopsy Bone marrow Cytomegalovirus Cytomegalovirus infections Defects Diarrhea Enamel Endoscopy Fever Genetic counseling Genotype & phenotype Immune system Immunodeficiency Immunoglobulins Immunology Infection Infections Lymphocytes Magnetic resonance imaging Meningitis Mutation Nervous system Patients Pneumonia Signal transduction T cells
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