Autoimmune Cytopenia

  • Olga Pashchenko
  • Irina Kondratenko
  • Svetlana Vakhlyrskaya


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


Combined immunodeficiency RAG1 Severe combined immunodeficiency Autoimmune cytopenia 


  1. 1.
    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.CrossRefGoogle Scholar
  2. 2.
    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.CrossRefGoogle Scholar
  3. 3.
    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.CrossRefGoogle Scholar
  4. 4.
    Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013;13(7):519–33.CrossRefGoogle Scholar
  5. 5.
    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.CrossRefGoogle Scholar
  6. 6.
    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.CrossRefGoogle Scholar
  7. 7.
    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.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Olga Pashchenko
    • 1
  • Irina Kondratenko
    • 1
    • 2
  • Svetlana Vakhlyrskaya
    • 1
    • 2
  1. 1.Department of ImmunologyPirogov Russian National Research Medical UniversityMoscowRussia
  2. 2.Clinical Immunology and Rheumatology DepartmentRussian Children’s Clinical HospitalMoscowRussia

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