Genetic Mutations and Immunological Features of Severe Combined Immunodeficiency Patients in Iran.

[1]  M. Tavassoli,et al.  National Consensus on Diagnosis and Management Guidelines for Primary Immunodeficiency , 2019 .

[2]  Q. Pan-Hammarström,et al.  Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency , 2018, Genetics in Medicine.

[3]  M. Tavassoli,et al.  Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis , 2018, Journal of Clinical Immunology.

[4]  Smita Y. Patel,et al.  The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017 , 2018, Clinical and experimental immunology.

[5]  M. Barbouche,et al.  New insights into physiopathology of immunodeficiency-associated vaccine-derived poliovirus infection; systematic review of over 5 decades of data. , 2018, Vaccine.

[6]  Ken Kelley,et al.  Sample-Size Planning for More Accurate Statistical Power: A Method Adjusting Sample Effect Sizes for Publication Bias and Uncertainty , 2017, Psychological science.

[7]  M. Afarideh,et al.  Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency , 2017, The Journal of allergy and clinical immunology.

[8]  Tong-Xin Chen,et al.  Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency , 2017, Front. Immunol..

[9]  J. Verbsky,et al.  Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay , 2017 .

[10]  J. Franco,et al.  Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication , 2017, Front. Immunol..

[11]  O. Sanal,et al.  Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing , 2017, Scandinavian journal of immunology.

[12]  N. Rezaei,et al.  Vaccine-Derived Polioviruses and Children with Primary Immunodeficiency, Iran, 1995–2014 , 2016, Emerging infectious diseases.

[13]  R. Sutter,et al.  Update on Vaccine-Derived Polioviruses — Worldwide, January 2017–June 2018 , 2016, MMWR. Morbidity and mortality weekly report.

[14]  Steven G F Wassilak,et al.  Progress Toward Polio Eradication - Worldwide, 2015-2016. , 2016 .

[15]  D. Kohn,et al.  Gene Therapy for the Treatment of Primary Immune Deficiencies , 2016, Current Allergy and Asthma Reports.

[16]  Jianguo Zhang,et al.  Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions , 2016, Journal of Clinical Immunology.

[17]  L. Notarangelo,et al.  Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis. , 2015, Clinical immunology.

[18]  A. Al-ghonaium,et al.  Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013) , 2015, Journal of Clinical Immunology.

[19]  R. Sutter,et al.  Update on Vaccine-Derived Polioviruses — Worldwide, January 2014–March 2015 , 2015, MMWR. Morbidity and mortality weekly report.

[20]  S. Spector,et al.  Practice parameter for the diagnosis and management of primary immunodeficiency. , 2015, The Journal of allergy and clinical immunology.

[21]  L. Notarangelo,et al.  A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. , 2014, The Journal of allergy and clinical immunology.

[22]  M. Kanariou,et al.  Primary Immunodeficiency Diseases: A 30-year Patient Registry from the Referral Center for Primary Immunodeficiencies in Greece , 2014, Journal of Clinical Immunology.

[23]  R. Long,et al.  Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study , 2013, Journal of Clinical Immunology.

[24]  J. Verbsky,et al.  Screening for severe combined immunodeficiency in neonates , 2013, Clinical epidemiology.

[25]  J. Casanova,et al.  Primary immunodeficiencies: a rapidly evolving story. , 2013, The Journal of allergy and clinical immunology.

[26]  I. Dalal,et al.  The Application of Clinical Genetics the Genetic Basis of Severe Combined Immunodeficiency and Its Variants , 2022 .

[27]  Sudhir Gupta,et al.  Primary immunodeficiencies in India: a perspective , 2012, Annals of the New York Academy of Sciences.

[28]  M. Houshmand,et al.  IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID. , 2011, Iranian journal of allergy, asthma, and immunology.

[29]  L. Notarangelo,et al.  Severe Combined Immunodeficiency (SCID): from molecular basisto clinical management , 2011 .

[30]  F. Cossu Genetics of SCID , 2010, Italian journal of pediatrics.

[31]  N. Rezaei,et al.  Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency. , 2009, International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases.

[32]  F. Alt,et al.  Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation. , 2009, Blood.

[33]  J. Puck Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. , 2007, The Journal of allergy and clinical immunology.

[34]  N. Rezaei,et al.  Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry , 2006, Journal of Clinical Immunology.

[35]  E. Stiehm,et al.  Potential costs and benefits of newborn screening for severe combined immunodeficiency. , 2005, The Journal of pediatrics.

[36]  A. Fischer,et al.  Severe combined immunodeficiency. A model disease for molecular immunology and therapy , 2005, Immunological reviews.

[37]  A. Fischer Severe combined immunodeficiencies (SCID) , 2000, Clinical and experimental immunology.

[38]  A. Villa,et al.  Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency. , 2000, Clinical immunology.

[39]  J. Puck,et al.  Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. , 1997, Blood.

[40]  Rosen Fs Severe combined immunodeficiency: a pediatric emergency. , 1997, The Journal of pediatrics.

[41]  M. Eslamian,et al.  Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. , 2017, Journal of investigational allergology & clinical immunology.

[42]  F. Rosen Severe combined immunodeficiency: a pediatric emergency. , 1997, The Journal of pediatrics.