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Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

MedGen UID:
1780796
•Concept ID:
C5447323
•
Disease or Syndrome

Definition

A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

Professional guidelines

PubMed

Advances in the treatment of severe combined immunodeficiency.
Slatter MA, Gennery AR
Clin Immunol 2022 Sep;242:109084. Epub 2022 Aug 5 doi: 10.1016/j.clim.2022.109084. PMID: 35940359
Primary immunodeficiency diseases in Northern Iran.
Mohammadzadeh I, Moazzami B, Ghaffari J, Aghamohammadi A, Rezaei N
Allergol Immunopathol (Madr) 2017 May-Jun;45(3):244-250. Epub 2017 Feb 22 doi: 10.1016/j.aller.2016.11.001. PMID: 28237128
Transfer of the ADA gene into bone marrow cells and peripheral blood lymphocytes for the treatment of patients affected by ADA-deficient SCID.
Bordignon C, Mavilio F, Ferrari G, Servida P, Ugazio AG, Notarangelo LD, Gilboa E, Rossini S, O'Reilly RJ, Smith CA
Hum Gene Ther 1993 Aug;4(4):513-20. doi: 10.1089/hum.1993.4.4-513. PMID: 8399494

Recent clinical studies

Etiology

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.
Dasanayake D, Bustamante J, Boisson-Dupuis S, Karunatilleke C, Thambyrajah J, Puel A, Chan KW, Doffinger R, Lau YL, Casanova JL, Kumararatne D, de Silva R
J Clin Immunol 2023 Nov;43(8):1858-1872. Epub 2023 Jul 22 doi: 10.1007/s10875-023-01542-3. PMID: 37480474Free PMC Article
Predictors of early death risk among untransplanted patients with combined immunodeficiencies affecting cellular and humoral immunity: A multicenter report.
Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Allergy Immunol 2022 Dec;33(12):e13901. doi: 10.1111/pai.13901. PMID: 36564872
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T, Ahmed K, Alshekaili J, Al Kindi M, Cook M, Al-Hosni A, Ansari Z, Nasr I, Al Sukaiti N
Front Immunol 2022;13:849694. Epub 2022 Apr 6 doi: 10.3389/fimmu.2022.849694. PMID: 35464432Free PMC Article
Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it.
Vilela MMDS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S67-S74. Epub 2020 Nov 24 doi: 10.1016/j.jped.2020.10.010. PMID: 33245895Free PMC Article
Severe combined immunodeficiences: new and old scenarios.
Aloj G, Giardino G, Valentino L, Maio F, Gallo V, Esposito T, Naddei R, Cirillo E, Pignata C
Int Rev Immunol 2012 Feb;31(1):43-65. doi: 10.3109/08830185.2011.644607. PMID: 22251007

Diagnosis

Efficient screening strategies for severe combined immunodeficiencies in newborns.
Blom M, Bredius RGM, van der Burg M
Expert Rev Mol Diagn 2023 Jul-Dec;23(9):815-825. Epub 2023 Aug 21 doi: 10.1080/14737159.2023.2244879. PMID: 37599592
Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.
Dasanayake D, Bustamante J, Boisson-Dupuis S, Karunatilleke C, Thambyrajah J, Puel A, Chan KW, Doffinger R, Lau YL, Casanova JL, Kumararatne D, de Silva R
J Clin Immunol 2023 Nov;43(8):1858-1872. Epub 2023 Jul 22 doi: 10.1007/s10875-023-01542-3. PMID: 37480474Free PMC Article
Predictors of early death risk among untransplanted patients with combined immunodeficiencies affecting cellular and humoral immunity: A multicenter report.
Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Allergy Immunol 2022 Dec;33(12):e13901. doi: 10.1111/pai.13901. PMID: 36564872
Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it.
Vilela MMDS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S67-S74. Epub 2020 Nov 24 doi: 10.1016/j.jped.2020.10.010. PMID: 33245895Free PMC Article
Severe combined immunodeficiences: new and old scenarios.
Aloj G, Giardino G, Valentino L, Maio F, Gallo V, Esposito T, Naddei R, Cirillo E, Pignata C
Int Rev Immunol 2012 Feb;31(1):43-65. doi: 10.3109/08830185.2011.644607. PMID: 22251007

Therapy

Predictors of early death risk among untransplanted patients with combined immunodeficiencies affecting cellular and humoral immunity: A multicenter report.
Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Allergy Immunol 2022 Dec;33(12):e13901. doi: 10.1111/pai.13901. PMID: 36564872
The Kuwait National Primary Immunodeficiency Registry 2004-2018.
Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y
Front Immunol 2019;10:1754. Epub 2019 Jul 24 doi: 10.3389/fimmu.2019.01754. PMID: 31396239Free PMC Article
CpG-oligodeoxynucleotides exert remarkable antitumor activity against diffuse malignant peritoneal mesothelioma orthotopic xenografts.
De Cesare M, Sfondrini L, Pennati M, De Marco C, Motta V, Tagliabue E, Deraco M, Balsari A, Zaffaroni N
J Transl Med 2016 Jan 25;14:25. doi: 10.1186/s12967-016-0781-4. PMID: 26810896Free PMC Article
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study.
Touzot F, Neven B, Dal-Cortivo L, Gabrion A, Moshous D, Cros G, Chomton M, Luby JM, Terniaux B, Magalon J, Picard C, Blanche S, Fischer A, Cavazzana M
J Allergy Clin Immunol 2015 May;135(5):1303-9.e1-3. Epub 2014 Oct 3 doi: 10.1016/j.jaci.2014.08.019. PMID: 25282016
Improvement of natural killer activity and of T cells after thymopoietin pentapeptide therapy in a patient with severe combined immunodeficiency.
Fiorilli M, Sirianni MC, Pandolfi F, Quinti I, Tosti U, Aiuti F, Goldstein G
Clin Exp Immunol 1981 Aug;45(2):344-51. PMID: 7032772Free PMC Article

Prognosis

Predictors of early death risk among untransplanted patients with combined immunodeficiencies affecting cellular and humoral immunity: A multicenter report.
Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Allergy Immunol 2022 Dec;33(12):e13901. doi: 10.1111/pai.13901. PMID: 36564872
The Kuwait National Primary Immunodeficiency Registry 2004-2018.
Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y
Front Immunol 2019;10:1754. Epub 2019 Jul 24 doi: 10.3389/fimmu.2019.01754. PMID: 31396239Free PMC Article
CpG-oligodeoxynucleotides exert remarkable antitumor activity against diffuse malignant peritoneal mesothelioma orthotopic xenografts.
De Cesare M, Sfondrini L, Pennati M, De Marco C, Motta V, Tagliabue E, Deraco M, Balsari A, Zaffaroni N
J Transl Med 2016 Jan 25;14:25. doi: 10.1186/s12967-016-0781-4. PMID: 26810896Free PMC Article
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study.
Touzot F, Neven B, Dal-Cortivo L, Gabrion A, Moshous D, Cros G, Chomton M, Luby JM, Terniaux B, Magalon J, Picard C, Blanche S, Fischer A, Cavazzana M
J Allergy Clin Immunol 2015 May;135(5):1303-9.e1-3. Epub 2014 Oct 3 doi: 10.1016/j.jaci.2014.08.019. PMID: 25282016
Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.
Michos A, Tzanoudaki M, Villa A, Giliani S, Chrousos G, Kanariou M
J Clin Immunol 2011 Oct;31(5):778-83. Epub 2011 Jul 6 doi: 10.1007/s10875-011-9564-0. PMID: 21732012

Clinical prediction guides

Predictors of early death risk among untransplanted patients with combined immunodeficiencies affecting cellular and humoral immunity: A multicenter report.
Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Allergy Immunol 2022 Dec;33(12):e13901. doi: 10.1111/pai.13901. PMID: 36564872
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T, Ahmed K, Alshekaili J, Al Kindi M, Cook M, Al-Hosni A, Ansari Z, Nasr I, Al Sukaiti N
Front Immunol 2022;13:849694. Epub 2022 Apr 6 doi: 10.3389/fimmu.2022.849694. PMID: 35464432Free PMC Article
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE
Pediatrics 2009 May;123(5):e871-7. doi: 10.1542/peds.2008-3400. PMID: 19403480Free PMC Article
Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.
Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA
Clin Exp Immunol 1987 Dec;70(3):491-9. PMID: 3436096Free PMC Article

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