Abstract
Different variants of RAG1 mutations cause different clinical PID syndromes: classic Omenn syndrome, severe combined immunodeficiency, leaky severe combined immunodeficiency (SCID), SCID with CMV or SCID with granulomas
Our patient had leaky SCID with severe autoimmune cytopenias and lung involvement
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Niehues T, Perez-Becker R, Schuetz C. More than just SCID – the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010;135(2):183–92.
Corneo B, Moshous D, Gungor T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood. 2001;97(9):2772–6.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010;116(8):1263–71.
Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013;13(7):519–33.
Bleesing JJ, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival. Pediatr Clin N Am. 2000;47(6):1291–310.
Chiarini M, Zanotti C, Serana F, Sottini A, Bertoli D, Caimi L, Imberti L. T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges. J Public Health Res. 2013;2(1):9–16.
Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D, Mahlaoui N, Debre M, Casanova JL, Dal Cortivo L, Madec Y, Hacein-Bey-Abina S, de Saint Basile G, de Villartay JP, Blanche S, Cavazzana-Calvo M, Fischer A. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood. 2009;113(17):4114–24.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Pashchenko, O., Kondratenko, I., Vakhlyrskaya, S. (2019). Autoimmune Cytopenia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_35
Download citation
DOI: https://doi.org/10.1007/978-3-030-21262-9_35
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21261-2
Online ISBN: 978-3-030-21262-9
eBook Packages: MedicineMedicine (R0)