نتایج جستجو برای: cell receptor excision circles

تعداد نتایج: 2110610  

Journal: :Blood 2011
Taco W Kuijpers Hanna Ijspeert Ester M M van Leeuwen Machiel H Jansen Mette D Hazenberg Kees C Weijer Rene A W van Lier Mirjam van der Burg

A girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4+ T lymphocytopenia (ICL). Her clinical condition remained stable over the past 10 years without infections, any granulomatous disease, or autoimmunity. Immunophenotyping demonstrated strongly reduced naive T and B cells with intact proliferativ...

Journal: :Frontiers in Immunology 2023

This report illustrates a case that would have been missed in the most common screening algorithms used worldwide newborn (NBS) for severe combined immunodeficiency (SCID). Our patient presented with clinical picture suggested inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level kappa-deleting recombination circles...

Journal: :Iranian journal of allergy, asthma, and immunology 2015
Maryam Nourizadeh Stephan Borte Mohammad Reza Fazlollahi Lennart Hammarström Zahra Pourpak

Severe combined immunodeficiency (SCID) represents a rare group of primary immunodeficiency disorders (PIDs), with known or unknown genetic alterations. Here, we report a new interleukin 2 receptor, gamma chain (IL-2RG) mutation in an Iranian SCID newborn. The patient was a 6-day old boy with a family history of PID. The child was screened using a molecular-based analysis for the assessment of ...

Journal: :Blood 2012
Stephan Borte Ulrika von Döbeln Anders Fasth Ning Wang Magdalena Janzi Jacek Winiarski Ulrich Sack Qiang Pan-Hammarström Michael Borte Lennart Hammarström

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor...

2012
Atar Lev Amos J. Simon Mor Bareket Bella Bielorai Daphna Hutt Ninette Amariglio Gideon Rechavi Raz Somech

The kinetics of T and B cell immune recovery after bone marrow transplantation (BMT) is affected by many pre- and post-transplant factors. Because of the profoundly depleted baseline T and B cell immunity in recombination activating gene 2 (RAG-2)-deficient severe combined immunodeficiency (SCID) patients, some of these factors are eliminated, and the immune recovery after BMT can then be clear...

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