|
Current issue
Archive
Manuscripts accepted
About the journal
Editorial board
Abstracting and indexing
Contact
Instructions for authors
Ethical standards and procedures
Editorial System
Submit your Manuscript
 
|
Original paper
What the pediatrician should know about different types of severe combined immunodeficiency: a single-center experience
Nel Dąbrowska-Leonik
1
,
Barbara Piątosa
2
,
Nadezda Bohynikova
1
,
Renata Grzywa-Czuba
3
,
Beata Wolska-Kuśnierz
1
,
Katarzyna Bernat-Sitarz
1
,
Małgorzata Skomska-Pawliszak
1
,
Ewa Anna Bernatowska
1
,
Małgorzata Pac
1
Pediatr Pol 2026; 101 (1)
Online publish date: 2026/03/10
Article file
- What the pediatrician (1).pdf
[0.23 MB]
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
1. Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, et al. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol 2023; 151: 539-546. 2.
Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood 2011; 117: 3243-3246. 3.
Piątosa B, Wolska-Kusnierz B, Siewiera K, Grzduk H, Gałkowska E, Bernatowska E. Distribution of leukocyte and lymphocyte subsets in peripheral blood. Age related normal values for preliminary evaluation of the immune status in Polish children. Centr Eur J Immunol 2010; 35: 168-175. 4.
Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, et al. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clin Immunol 2024; 261: 109942. 5.
Pichler WJ, Tilch J. The lymphocyte transformation test in the diagnosis of drug hypersensitivity. Allergy 2004; 59: 809-820. 6.
Wolska-Kusnierz B, Pac M, Piatosa B, Pac, Kurenko-Deptuch M, Heropolitańska-Pliszka B, et al. Wartości referencyjne stężeń immunoglobulin G, A, M i D w surowicy zdrowych dzieci i osób dorosłych, mieszkańców województwa mazowieckiego. Standard Med Pediatr 2010; 3: 524-532. 7.
Kreins AY, Dhalla, F, Flinn AM, Howley E, Ekwall O, Villa A, et al. European Society for Immunodeficiencies Clinical Working Party. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia. J Allergy Clin Immunol 2024; 18: S0091-6749(24)00980-1. 8.
Bernatowska E, Wolska-Kuśnierz B, Pac M, Kurenko-Deptuch M, Pietrusza B, Zwolska Z, et al. Risk of BCG infection in primary immunodeficiency children. Proposal of diagnostic, prophylactic and therapeutic guidelines for disseminated BCG based on experience in the Department of Immunology, Children’s Memorial Health Institute in Warsaw between 1980–2006. Centr Eur J Immunol 2007; 32: 221-225. 9.
European Society for Immunodeficiences (ESID) Clinical Working Party Diagnostic Criteria for PID: BCG Diagnostic Criteria. Available from: https://archive.esid.org/Media/Files/BCG-diagnostic-criteria (accessed: 14.04.2025) 10.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, et al. The clinical and genetic spectrum of 82 patients with RAG deficiency including a c.256_257delAA founder variant in Slavic countries. Front Immunol 2020; 11: 900. 11.
Wolska-Kuśnierz B. Evaluation of treatment outcomes and immune system reconstitution in patients with primary immunodeficiencies following hematopoietic stem cell transplantation. Dissertation. The Children’s Memorial Health Institute, Warsaw 2008. 12.
Blom M, Soomann M, Soler-Palacín P, Šedivá A, Stray-Pedersen A, Zetterström R, et al. Newborn screening for SCID and severe T lymphocytopenia in Europe. J Allergy Clin Immunol 2024; 6: S0091-6749(24)01162-X. 13.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, et al. Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: experience from the first 14 months of collaboration. Front Immunol 2020; 11: 1948. 14.
Mazalon M, Grześk E, Dąbrowska A, Urbańczyk A, Kołtan S. The significance of medical history and its impact on the early diagnosis of inborn error of immunity. Pediatr Pol 2024; 99: 246-249. 15.
Lev A, Somech R, Somekh I. Newborn screening for severe combined immunodeficiency and inborn errors of immunity. Curr Opin Pediatr 2023; 35: 692-702. 16.
Bernatowska E, Skomsa-Pawliszak M, Wolska-Kuśnierz B, Pac M, Heropolitanska-Pliszka E, Pietrucha B, et al. BCG moreau vaccine safety profile and NK cells-double protection against disseminated BCG infection in retrospective study of BCG vaccination in 52 Polish children with severe combined immunodeficiency. J Clin Immunol 2020; 40: 138-146. 17.
Poyraz A, Cansever M, Muderris I, Patiroglu T. Neonatal lymphopenia screening is important for early diagnosis of severe combined immunodeficiency. Am J Perinatol 2023; 40: 748-752. 18.
Delmonte OM, Villa A, Notarangelo LD. Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency. Blood 2020; 135: 610-619. 19.
Farmer JR, Foldvari Z, Ujhazi B, de Ravin SS, Chen K, Bleesing JJH, et al. Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency. J Allergy Clin Immunol Pract 2019; 7: 1970-1985.e4. 20.
Min Q, Csomos K, Li Y, Dong L, Hu Z, Meng X, et al. B cell abnormalities and autoantibody production in patients with partial RAG deficiency. Front Immunol 2023; 14: 1155380. 21.
Vignesh P, Rawat A, Kumrah R, Singh A, Gummadi A, Sharma M, et al. Clinical, immunological, and molecular features of severe combined immune deficiency: a multi-institutional experience from India. Front Immunol 2021; 11: 619146. 22.
Speckmann C, Nennstiel U, Hönig M, Albert MH, Ghosh S, Schuetz C, et al. Prospective newborn screening for SCID in Germany: a first Analysis by the Pediatric Immunology Working Group (API). J Clin Immunol 2023; 27: 1-14. 23.
De Pagter AP, Bredius RG, Kuijpers TW, Tramper J, van der Burg M, van Montfrans J, et al. Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening. Eur J Pediatr 2015; 174: 1183-1188. 24.
Yao CM, Han XH, Zhang YD, Zhang H, Jin YY, Cao RM, et al. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). J Clin Immunol 2013; 33: 526-539. 25.
Lee PP, Chan KW, Chen TX, Jiang LP, Wang XC, Zeng HS, et al. Molecular diagnosis of severe combined immunodeficiency – identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. J Clin Immunol 2011; 31: 281-296. 26.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M Cook MC, Al Farsi T. A decade experience on severe combined immunodeficiency phenotype in Oman, bridging to newborn screening. Front Immunol 2021; 11: 623199. 27.
Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol 2018; 141: 1450-1458. 28.
Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, et al. Turkish pediatric bone marrow transplantation sub group (TPBMT-SG). Clinical features and HSCT outcome for SCID in Turkey. J Clin Immunol 2019;39: 316-323. 29.
Cirillo E, Cancrini C, Azzari C, Martino S, Martire B, Pession A, et al. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the Italian primary immunodeficiency network. Front Immunol 2019; 10: 1908. 30.
Pasic S, Vujic D, Veljković D, Slavkovic B, Mostarica-Stojkovic M, Minic P, et al. Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. J Clin Immunol 2014; 34: 304-308.
Copyright: © 2026 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
|
POLSKI
