title: Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India.
authors.affiliation: Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India.
authors.forename: Jahnavi
authors.initials: J
authors.lastname: Aluri
authors.affiliation: Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India.
authors.forename: Khushnuma
authors.initials: K
authors.lastname: Italia
authors.affiliation: Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India.
authors.forename: Maya
authors.initials: M
authors.lastname: Gupta
authors.affiliation: Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India.
authors.forename: Aparna
authors.initials: A
authors.lastname: Dalvi
authors.affiliation: KEM hospital, 489, Rasta Peth, Sardar Moodilar Road, Pune 411011, India.
authors.forename: Ashish
authors.initials: A
authors.lastname: Bavdekar
authors.affiliation: Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India. Electronic address: madkaikarmanisha@gmail.com.
authors.forename: Manisha
authors.initials: M
authors.lastname: Madkaikar
mesh_terms: D001483:Base Sequence; D003241:Consanguinity; D017809:Fatal Outcome; D015870:Gene Expression; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000235:genetics* / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology; D051746:ZAP-70 Protein-Tyrosine Kinase / Q000235:genetics* / Q000276:immunology
chemical_list: D011948:Receptors, Antigen, T-Cell; D051746:ZAP-70 Protein-Tyrosine Kinase; C497261:ZAP70 protein, human