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Severe Combined Immunodeficiency due to CD45 Deficiency

MedGen UID:
1784677
•Concept ID:
C5447327
•
Disease or Syndrome
Synonym: Severe Combined Immunodeficiency, T cell-Negative, B-cell/Natural Killer Cell Positive, PTPRC

Definition

An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere Combined Immunodeficiency due to CD45 Deficiency

Professional guidelines

PubMed

Advances in the understanding and treatment of human severe combined immunodeficiency.
Buckley RH
Immunol Res 2000;22(2-3):237-51. doi: 10.1385/IR:22:2-3:237. PMID: 11339359

Recent clinical studies

Etiology

Evaluation of thymopoiesis in healthy Turkish children aged 0-6 years.
Kavgacı A, Bayrakoğlu D, Bal SK, Haskoloğlu Ş, Çullas-İlarslan NE, Topçu S, Okulu E, İslamoğlu C, Arıkan M, Doğu F, İkincioğulları KA
Turk J Pediatr 2023;65(1):73-80. doi: 10.24953/turkjped.2021.5190. PMID: 36866987
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free 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
Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.
Pignata C, Gaetaniello L, Masci AM, Frank J, Christiano A, Matrecano E, Racioppi L
Blood 2001 Feb 15;97(4):880-5. doi: 10.1182/blood.v97.4.880. PMID: 11159512
Advances in the understanding and treatment of human severe combined immunodeficiency.
Buckley RH
Immunol Res 2000;22(2-3):237-51. doi: 10.1385/IR:22:2-3:237. PMID: 11339359

Diagnosis

Evaluation of thymopoiesis in healthy Turkish children aged 0-6 years.
Kavgacı A, Bayrakoğlu D, Bal SK, Haskoloğlu Ş, Çullas-İlarslan NE, Topçu S, Okulu E, İslamoğlu C, Arıkan M, Doğu F, İkincioğulları KA
Turk J Pediatr 2023;65(1):73-80. doi: 10.24953/turkjped.2021.5190. PMID: 36866987
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article
Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?
Cowan MJ, Gennery AR
J Allergy Clin Immunol 2015 Nov;136(5):1178-85. Epub 2015 Jun 6 doi: 10.1016/j.jaci.2015.04.027. PMID: 26055221Free PMC Article
A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease.
Janik DK, Lindau-Shepard B, Comeau AM, Pass KA
Clin Chem 2010 Sep;56(9):1460-5. Epub 2010 Jul 21 doi: 10.1373/clinchem.2010.144329. PMID: 20660143Free PMC Article
Advances in the understanding and treatment of human severe combined immunodeficiency.
Buckley RH
Immunol Res 2000;22(2-3):237-51. doi: 10.1385/IR:22:2-3:237. PMID: 11339359

Therapy

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article
Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later.
Fuehrer M, Pannicke U, Schuetz C, Jacobsen EM, Schulz A, Friedrich W, Schwarz K, Hönig M
Klin Padiatr 2014 May;226(3):149-53. Epub 2014 Feb 10 doi: 10.1055/s-0033-1361142. PMID: 24515816
Human peripheral blood leucocyte non-obese diabetic-severe combined immunodeficiency interleukin-2 receptor gamma chain gene mouse model of xenogeneic graft-versus-host-like disease and the role of host major histocompatibility complex.
King MA, Covassin L, Brehm MA, Racki W, Pearson T, Leif J, Laning J, Fodor W, Foreman O, Burzenski L, Chase TH, Gott B, Rossini AA, Bortell R, Shultz LD, Greiner DL
Clin Exp Immunol 2009 Jul;157(1):104-18. doi: 10.1111/j.1365-2249.2009.03933.x. PMID: 19659776Free PMC Article
Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency.
Palmer K, Green TD, Roberts JL, Sajaroff E, Cooney M, Parrott R, Chen DF, Reinsmoen NL, Buckley RH
J Allergy Clin Immunol 2007 Aug;120(2):423-8. Epub 2007 May 3 doi: 10.1016/j.jaci.2007.02.047. PMID: 17481714
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution.
Buckley RH
Annu Rev Immunol 2004;22:625-55. doi: 10.1146/annurev.immunol.22.012703.104614. PMID: 15032591

Prognosis

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India.
Aluri J, Gupta M, Dalvi A, Mhatre S, Kulkarni M, Hule G, Desai M, Shah N, Taur P, Vedam R, Madkaikar M
Front Immunol 2018;9:188. Epub 2018 Feb 16 doi: 10.3389/fimmu.2018.00188. PMID: 29527204Free 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
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL, Buckley RH, Luo B, Pei J, Lapidus A, Peri S, Wei Q, Shin J, Parrott RE, Dunbrack RL Jr, Testa JR, Zhong XP, Wiest DL
Proc Natl Acad Sci U S A 2012 Jun 26;109(26):10456-61. Epub 2012 Jun 11 doi: 10.1073/pnas.1202249109. PMID: 22689986Free PMC Article
Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.
Pignata C, Gaetaniello L, Masci AM, Frank J, Christiano A, Matrecano E, Racioppi L
Blood 2001 Feb 15;97(4):880-5. doi: 10.1182/blood.v97.4.880. PMID: 11159512

Clinical prediction guides

Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings.
Pala F, Corsino C, Calzoni E, Villa A, Pittaluga S, Palchaudhuri R, Bosticardo M, Notarangelo LD
J Allergy Clin Immunol 2024 Jan;153(1):341-348.e3. Epub 2023 Aug 9 doi: 10.1016/j.jaci.2023.07.017. PMID: 37567393
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article
Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later.
Fuehrer M, Pannicke U, Schuetz C, Jacobsen EM, Schulz A, Friedrich W, Schwarz K, Hönig M
Klin Padiatr 2014 May;226(3):149-53. Epub 2014 Feb 10 doi: 10.1055/s-0033-1361142. PMID: 24515816
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL, Buckley RH, Luo B, Pei J, Lapidus A, Peri S, Wei Q, Shin J, Parrott RE, Dunbrack RL Jr, Testa JR, Zhong XP, Wiest DL
Proc Natl Acad Sci U S A 2012 Jun 26;109(26):10456-61. Epub 2012 Jun 11 doi: 10.1073/pnas.1202249109. PMID: 22689986Free PMC Article
In vitro expanded cells contributing to rapid severe combined immunodeficient repopulation activity are CD34+38-33+90+45RA-.
Vanheusden K, Van Coppernolle S, De Smedt M, Plum J, Vandekerckhove B
Stem Cells 2007 Jan;25(1):107-14. Epub 2006 Sep 14 doi: 10.1634/stemcells.2006-0256. PMID: 16973833

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