Back عوز المناعة المشترك الشديد Arabic Teška kombinirana imunodeficijencija BS Immunodeficiència combinada greu Catalan SCID Czech Schwerer kombinierter Immundefekt German Βαρεία συνδυασμένη ανοσοανεπάρκεια Greek Inmunodeficiencia combinada grave Spanish Raske kombineeritud immuunpuudulikkus Estonian Déficit immunitaire combiné sévère French Comheaspa imdhíonachta dhian Irish

Severe combined immunodeficiency

Severe Combined Immune Deficiency
Other namesAlymphocytosis, Glanzmann–Riniker syndrome, Severe mixed immunodeficiency syndrome, and Thymic alymphoplasia[1]
David Vetter, a child born in 1971 with severe combined immunodeficiency (SCID).
David Vetter, a child born in 1971 with severe combined immunodeficiency (SCID).
SpecialtyImmunology Edit this on Wikidata
TreatmentBone marrow transplantation and prophylaxis against infection
MedicationIVIG, gene therapy
Frequency1 in 50,000 to 100,000 (X-linked form)

Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations.[2] SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells.[3] Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies,[4] and there are now at least nine different known genes in which mutations lead to a form of SCID.[5] It is also known as the bubble boy disease and bubble baby disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent.

SCID patients are usually affected by severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive.[3] Ear infections, recurrent Pneumocystis jirovecii (previously carinii) pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within one year due to severe, recurrent infections unless they have undergone successful hematopoietic stem cell transplantation or gene therapy in clinical trials.[6]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ Burg M, Gennery AR (2011). "Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency". Eur J Pediatr. 170 (5): 561–571. doi:10.1007/s00431-011-1452-3. PMC 3078321. PMID 21479529.
  3. ^ a b Aloj G, Giardano G, Valentino L, Maio F, Gallo V, Esposito T, Naddei R, Cirillo E, Pignata C (2012). "Severe combined immunodeficiencies: New and Old Scenarios". Int Rev Immunol. 31 (1): 43–65. doi:10.3109/08830185.2011.644607. PMID 22251007. S2CID 24088244.
  4. ^ Cavazanna-Calvo M, Hacein-Bey S, Yates F, de Villartay JP, Le Deist F, Fischer A (2001). "Gene therapy of severe combined immunodeficiencies". J Gene Med. 3 (3): 201–206. doi:10.1002/1521-2254(200105/06)3:3<201::AID-JGM195>3.0.CO;2-Z. PMID 11437325.
  5. ^ Buckley R (2003). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu Rev Immunol. 22: 625–655. doi:10.1146/annurev.immunol.22.012703.104614. PMID 15032591.
  6. ^ Rohr, Karen (2019-04-17). "Gene therapy restores immunity in infants with rare immunodeficiency disease". National Institutes of Health (NIH). Retrieved 2020-06-04.

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