Filters

K Scott Baker, Andrew C Dietz, Jennifer Heimall, Rebecca H Buckley, Jennifer Puck, Thomas A Fleisher, Andrew R Gennery, Elie Haddad, Benedicte Neven, Mary Slatter, Skinner Roderick, Christine Duncan, Linda M Griffith, Luigi Notarangelo, Michael A Pulsipher, Morton J Cowan

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018;23(8):1229-1240

Free Full Text

Abstract

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.

Janet Chou, Anas M Alazami, Faris Jaber, Rodrigo Hoyos-Bachiloglu, Jennifer Jones, Sabrina Weeks, Mohammed F Alosaimi, Wayne Bainter, Brittney Cangemi, Yousef R Badran, Reem Mohammed, Fayhan Alroqi, Abduarahman Almutairi, Noufa Al-Onazi, Sulaiman AlAjaji, Bander Al-Saud, Rand Arnaout, Megan Elkins, Sridevi Devana, Juliet Imperial, Betty Li, Linnea Drexhage, Anas M Abdel Rahman, Minnie Jacob, Hadi Haddad, Rima Hanna-Wakim, Ghassan Dbaibo, Michel J Massaad, Majed Dasouki, Raymond Mikhael, Zeina Baz, Raif S Geha, Hamoud Al-Mousa

The Journal of allergy and clinical immunology 2021;146(1):192-202

Full Text

Abstract

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.

Ye Cui, Sevgi Keles, Louis-Marie Charbonnier, Amélie M Julé, Lauren Henderson, Seyma Celikbilek Celik, Ismail Reisli, Chen Shen, Wen Jun Xie, Klaus Schmitz-Abe, Hao Wu, Talal A Chatila

The Journal of allergy and clinical immunology 2020;145(1):391-401.e8

Free Full Text

Abstract

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Hye Sun Kuehn, Nicholas J Gloude, David Dimmock, Mari Tokita, Meredith Wright, Sergio D Rosenzweig, Cathleen Collins

Journal of clinical immunology 2022;41(6):1241-1249

Free Full Text

Abstract

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.

Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018;23(3):379-387

Free Full Text

Abstract

Megadose CD34(+) cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation.

Christopher C Dvorak, Giun-Yi Hung, Biljana Horn, Elizabeth Dunn, Ching-Ying Oon, Morton J Cowan

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008;14(10):1125-1133

Free Full Text

Abstract

Mobilization characteristics and strategies to improve hematopoietic progenitor cell mobilization and collection in patients with chronic granulomatous disease and severe combined immunodeficiency.

Sandhya R Panch, Yu Ying Yau, Elizabeth M Kang, Suk See De Ravin, Harry L Malech, Susan F Leitman

Transfusion 2015;55(2):265-74

Free Full Text

Abstract

Gene-environment interactions in primary atopic disorders.

Keith A Sacco, Joshua D Milner

Current opinion in immunology 2020;60():148-155

Full Text

Abstract

Results: 1 – 15 / 28

Filters

Expert Opinion

Text Availability

Publication Types

Publication Year

Results for ""Severe Combined Immunodeficiency""[mesh_terms]

Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years.

Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches.

Genetics of SCID.

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing.

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

Diseases caused by mutations in ORAI1 and STIM1.

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Megadose CD34(+) cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation.

Mobilization characteristics and strategies to improve hematopoietic progenitor cell mobilization and collection in patients with chronic granulomatous disease and severe combined immunodeficiency.

Gene-environment interactions in primary atopic disorders.

Results for
""Severe Combined Immunodeficiency""[mesh_terms]