Review
Pathology
Maartje Blom, Robbert G. M. Bredius, Miriam van der Burg
Summary: SCID is a severe form of immune system disorder that affects both cellular and humoral immunity. Without proper treatment, infants with SCID will die within the first year of life. Therefore, screening for SCID in newborns is of great importance.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Immunology
Shuangjun Liu, Feng Huo, Guorui Dai, Jie Wu, Maoquan Qin, Huawei Mao, Quan Wang
Summary: This case report describes a patient who developed immune reconstitution inflammatory syndrome (IRIS) after hematopoietic stem cell transplantation, following severe disseminated infection caused by bacillus Calmette-Guerin (BCG) vaccine. The patient experienced complications including veno-occlusive disease and acute graft-versus-host disease post-transplant, with symptoms of IRIS emerging after immunosuppressants were withdrawn.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Atar Lev, Idan Sharir, Amos J. Simon, Shiran Levy, Yu Nee Lee, Shirly Frizinsky, Suha Daas, Talia Saraf-Levy, Arnon Broides, Amit Nahum, Suhair Hanna, Polina Stepensky, Ori Toker, Ilan Dalal, Amos Etzioni, Jerry Stein, Etai Adam, Ayal Hendel, Nufar Marcus, Shlomo Almashanu, Raz Somech
Summary: This study provides a 5-year summary of the SCID newborn screening program in Israel, demonstrating its effectiveness and outcomes. The program achieved high specificity and sensitivity in detecting SCID cases, resulting in the diagnosis and management of 32 SCID infants. The study highlights the importance of implementing global SCID newborn screening programs and emphasizes the value of accumulating knowledge from screening data.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Article
Allergy
Arjan C. Lankester, Benedicte Neven, Nizar Mahlaoui, Erik G. J. von Asmuth, Virginie Courteille, Mikael Alligon, Michael H. Albert, Isabelle Badell Serra, Peter Bader, Dmitry Balashov, Rita Beier, Yves Bertrand, Stephane Blanche, Victoria Bordon, Robbert G. Bredius, Andrew Cant, Marina Cavazzana, Cristina Diaz-de-Heredia, Figen Dogu, Karoline Ehlert, Natacha Entz-Werle, Anders Fasth, Francesca Ferrua, Alina Ferster, Renata Formankova, Wilhelm Friedrich, Marta Gonzalez-Vicent, Jolanta Gozdzik, Tayfun Gungor, Manfred Hoenig, Aydan Ikinciogullari, Krzysztof Kalwak, Savas Kansoy, Alphan Kupesiz, Arnalda Lanfranchi, Caroline A. Lindemans, Roland Meisel, Gerard Michel, Nuno A. A. Miranda, Jose Moraleda, Despina Moshous, Herbert Pichler, Kanchan Rao, Petr Sedlacek, Mary Slatter, Elena Soncini, Carsten Speckmann, Mikael Sundin, Amos Toren, Kim Vettenranta, Austen Worth, Mehmet A. Yesilipek, Marco Zecca, Fulvio Porta, Ansgar Schulz, Paul Veys, Alain Fischer, Andrew R. Gennery
Summary: This comprehensive multicenter analysis examined the outcomes of hematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID) and analyzed the factors affecting immune reconstitution (IR) and long-term clinical outcomes. The results showed improved overall survival (OS) and event-free survival (EFS) in all genotypes and donor types. Pretransplantation infections and the use of mismatched related donors were associated with less favorable OS and EFS. The study also identified factors such as specific genetic mutations, conditioning regimen, matched donor HSCT, and levels of naive CD4 T lymphocytes as independent predictors of favorable clinical and immunologic outcomes.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Review
Allergy
Robert Currier, Jennifer M. Puck
Summary: Newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has proven to be an effective measure in improving outcomes by helping patients avoid devastating infections and receive prompt treatment. The T-cell receptor excision circle test has been widely adopted in the United States, providing important lessons for public health programs and medical professionals.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Jaime E. Hale, Craig D. Platt, Francisco A. Bonilla, Beverly N. Hay, John L. Sullivan, Alicia M. Johnston, Mark S. Pasternack, Paul E. Hesterberg, H. Cody Meissner, Ellen R. Cooper, Sara Barmettler, Jocelyn R. Farmer, Donna Fisher, Jolan E. Walter, Nancy J. Yang, Inderneel Sahai, Roger B. Eaton, Alfred DeMaria, Luigi D. Notarangelo, Sung-Yun Pai, Anne Marie Comeau
Summary: Massachusetts implemented newborn screening for SCID using TRECs measurements, finding SCID/leaky SCID cases among newborns. The study supports a single NBS testing-and referral algorithm for all gestational ages and shows that low naive T-cell percentage is associated with a higher risk of SCID/CID.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Allergy
Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Rebecca H. Buckley, Donald B. Kohn, Morton J. Cowan, Sung-Yun Pai, Linda M. Griffith, Geoffrey D. E. Cuvelier, Hesham Eissa, Ami J. Shah, Richard J. O'Reilly, Michael A. Pulsipher, Nicola A. M. Wright, Roshini S. Abraham, Lisa Forbes Satter, Luigi D. Notarangelo, Jennifer M. Puck
Summary: Severe combined immunodeficiency (SCID) is an immune deficiency disorder caused by defects in the differentiation of hematopoietic stem cells into mature T lymphocytes. In 2014, the Primary Immune Deficiency Treatment Consortium published diagnostic criteria for SCID, which have now been revised. According to the updated definitions, SCID patients have low T-cell numbers, pathogenic variants in certain genes, or abnormal T-cell markers. The treatment strategy should be tailored to individual patients.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Faiza Basheer, Effie Lee, Clifford Liongue, Alister C. Ward
Summary: This study successfully generated a zebrafish model of SCID and found that mutant fish exhibited defects in lymphoid development and maturation and were susceptible to lymphoid leukemia. The model has similarities to human SCID and can be used for pre-clinical research.
Article
Immunology
Nashat Al Sukaiti, Khwater Ahmed, Jalila Alshekaili, Mahmood Al Kindi, Matthew C. Cook, Tariq Al Farsi
Summary: This study reports the clinical, immunological, and molecular findings of 36 children diagnosed with SCID at a tertiary medical center in Oman over the past decade. The results show a median annual incidence rate of 4.5 per 100,000 Omani live births, with 91.7% of affected children born to consanguineous parents.
FRONTIERS IN IMMUNOLOGY
(2021)
Editorial Material
Immunology
David A. C. Elliman, Andrew R. Gennery
Summary: SCID is a severe primary immunodeficiency disease that presents in infancy, characterized by recurrent infections, progressive pneumonia, and failure to thrive. Newborn bloodspot screening can detect T lymphocyte receptor excision circles, which is crucial for early detection of SCID.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2021)
Article
Hematology
Bryanna Reinhardt, Omar Habib, Kit L. Shaw, Elizabeth Garabedian, Denise A. Carbonaro-Sarracino, Dayna Terrazas, Beatriz Campo Fernandez, Satiro De Oliveira, Theodore B. Moore, Alan K. Ikeda, Barbara C. Engel, Gregory M. Podsakoff, Roger P. Hollis, Augustine Fernandes, Connie Jackson, Sally Shupien, Suparna Mishra, Alejandra Davila, Jack Mottahedeh, Andrej Vitomirov, Wenzhao Meng, Aaron M. Rosenfeld, Aoife M. Roche, Pascha Hokama, Shantan Reddy, John Everett, Xiaoyan Wang, Eline T. Luning Prak, Kenneth Cornetta, Michael S. Hershfield, Robert Sokolic, Suk See De Ravin, Harry L. Malech, Frederic D. Bushman, Fabio Candotti, Donald B. Kohn
Summary: Gene therapy for ADA SCID has shown long-term efficacy in immune reconstitution, with younger patients and those receiving higher doses of gene-marked CD34(+) cells generally having better outcomes. However, risks of genotoxicity with gammaretroviral vectors have also been highlighted.
Article
Immunology
Natalie A. Booth, Catherine M. Freeman, Benjamin L. Wright, Christine Rukasin, Priscila Badia, Michael Daines, Cindy S. Bauer, Holly Miller
Summary: This study retrospectively reviewed the abnormal SCID newborn screening tests in Arizona from January 1, 2018, to December 31, 2019, and found an incidence of 1 in 22,819 live births. Among the diagnosed infants, four had Artemis-type SCID. The study also identified infants with congenital syndromes associated with T cell lymphopenia, with a higher representation of infants of Hispanic ethnicity. The increased incidence of SCID in Arizona is likely due to the state's unique population profile, particularly with a higher percentage of Native American and Hispanic populations.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio
Summary: This nationwide study in Japan found that umbilical cord blood (UCB) transplantation can be a potential donor source for SCID patients. Additionally, early age at HCT and absence of active infection are critical for a better prognosis in SCID patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Immunology
Morna J. Dorsey, Nicola A. M. Wright, Natalia S. Chaimowitz, Blachy J. Davila Saldana, Holly Miller, Michael D. Keller, Monica S. Thakar, Ami J. Shah, Rolla Abu-Arja, Jeffrey Andolina, Victor Aquino, J. L. Barnum, Jeffrey J. Bednarski, Monica Bhatia, Francisco A. Bonilla, Manish J. Butte, Nancy J. Bunin, Sharat Chandra, Sonali Chaudhury, Karin Chen, Hey Chong, Geoffrey D. E. Cuvelier, Jignesh Dalal, Magee L. DeFelice, Kenneth B. DeSantes, Lisa R. Forbes, Alfred Gillio, Fred Goldman, Avni Y. Joshi, Neena Kapoor, Alan P. Knutsen, Lisa Kobrynski, Jay A. Lieberman, Jennifer W. Leiding, Benjamin Oshrine, Kiran P. Patel, Susan Prockop, Troy C. Quigg, Ralph Quinones, Kirk R. Schultz, Christine Seroogy, David Shyr, Subhadra Siegel, Angela R. Smith, Troy R. Torgerson, Mark T. Vander Lugt, Lolie C. Yu, Morton J. Cowan, Rebecca H. Buckley, Christopher C. Dvorak, Linda M. Griffith, Elie Haddad, Donald B. Kohn, Brent Logan, Luigi D. Notarangelo, Sung-Yun Pai, Jennifer Puck, Michael A. Pulsipher, Jennifer Heimall
Summary: The study found that patients diagnosed via NBS had higher infection rates compared to those diagnosed via FH, with no significant difference in infection rates between outpatient and inpatient management. PIDTC centers had varied pre-HSCT management practices, but there was more consistency in the use of immunoglobulin replacement and antimicrobial prophylaxis.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Maartje Blom, Rolf H. Zetterstrom, Asbjorg Stray-Pedersen, Kimberly Gilmour, Andrew R. Gennery, Jennifer M. Puck, Mirjam van der Burg
Summary: The study identified a lack of uniform terminology in international SCID NBS programs, hindering comparisons. By aligning terminologies and clarifying distinctions, international knowledge exchange can be promoted to optimize health outcomes for children worldwide. Collaboration among specialists in each disorder for which NBS is conducted is recommended to standardize definitions and outcomes registration.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)