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Combined Immunodeficiencies Associated with Syndromic Features

MedGen UID:
1783688
Concept ID:
C5447321
Disease or Syndrome
Synonym: Combined Cellular and Humoral Immunodeficiencies Associated with Syndromic Features

Definition

A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined Immunodeficiencies Associated with Syndromic Features

Professional guidelines

PubMed

Massaad MJ, Zainal M, Al-Herz W
Front Immunol 2020;11:1119. Epub 2020 Jun 2 doi: 10.3389/fimmu.2020.01119. PMID: 32582199Free PMC Article

Recent clinical studies

Etiology

Cutts L, Bakshi A, Walsh M, Parslew R, Eustace K
Pediatr Dermatol 2021 Mar;38(2):541-543. Epub 2021 Jan 29 doi: 10.1111/pde.14401. PMID: 33511666
Rivers E, Worth A, Thrasher AJ, Burns SO
Br J Haematol 2019 May;185(4):647-655. Epub 2019 Mar 12 doi: 10.1111/bjh.15831. PMID: 30864154Free PMC Article
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
Chistiakov DA
Adv Exp Med Biol 2010;685:175-85. doi: 10.1007/978-1-4419-6448-9_16. PMID: 20687505

Diagnosis

Chen KR
J Dermatol 2024 Feb;51(2):150-159. Epub 2023 Nov 13 doi: 10.1111/1346-8138.17030. PMID: 37955334Free PMC Article
Cutts L, Bakshi A, Walsh M, Parslew R, Eustace K
Pediatr Dermatol 2021 Mar;38(2):541-543. Epub 2021 Jan 29 doi: 10.1111/pde.14401. PMID: 33511666
Rivers E, Worth A, Thrasher AJ, Burns SO
Br J Haematol 2019 May;185(4):647-655. Epub 2019 Mar 12 doi: 10.1111/bjh.15831. PMID: 30864154Free PMC Article
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Therapy

Brown LK, Moran E, Goodman A, Baxendale H, Bermingham W, Buckland M, AbdulKhaliq I, Jarvis H, Hunter M, Karanam S, Patel A, Jenkins M, Robbins A, Khan S, Simpson T, Jolles S, Underwood J, Savic S, Richter A, Shields A, Brown M, Lowe DM
J Allergy Clin Immunol 2022 Feb;149(2):557-561.e1. Epub 2021 Nov 12 doi: 10.1016/j.jaci.2021.10.031. PMID: 34780850Free PMC Article
Crombie J, LaCasce A
Blood 2021 Feb 11;137(6):743-750. doi: 10.1182/blood.2019004099. PMID: 33171490
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T
J Clin Immunol 2014 May;34(4):398-424. Epub 2014 Mar 12 doi: 10.1007/s10875-014-0003-x. PMID: 24619621
Rajagopalan S, Yoshikawa TT
Z Gerontol Geriatr 2000 Oct;33(5):374-80. doi: 10.1007/s003910070034. PMID: 11130191

Prognosis

Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group
J Allergy Clin Immunol 2024 Jan;153(1):297-308.e12. Epub 2023 Nov 17 doi: 10.1016/j.jaci.2023.11.006. PMID: 37979702
Crombie J, LaCasce A
Blood 2021 Feb 11;137(6):743-750. doi: 10.1182/blood.2019004099. PMID: 33171490
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Clinical prediction guides

Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group
J Allergy Clin Immunol 2024 Jan;153(1):297-308.e12. Epub 2023 Nov 17 doi: 10.1016/j.jaci.2023.11.006. PMID: 37979702
Cornea A, Lata I, Simu M, Rosca EC
Viruses 2023 Jan 28;15(2) doi: 10.3390/v15020378. PMID: 36851592Free PMC Article
Carbone A, Gloghini A, Serraino D, Spina M
Curr Opin HIV AIDS 2009 Jan;4(1):3-10. doi: 10.1097/COH.0b013e32831a722b. PMID: 19339934
Rajagopalan S, Yoshikawa TT
Z Gerontol Geriatr 2000 Oct;33(5):374-80. doi: 10.1007/s003910070034. PMID: 11130191

Recent systematic reviews

Ricci S, Sarli WM, Lodi L, Canessa C, Lippi F, Dini D, Ferrari M, Pisano L, Sieni E, Indolfi G, Resti M, Azzari C
Front Immunol 2024;15:1282804. Epub 2024 Feb 13 doi: 10.3389/fimmu.2024.1282804. PMID: 38415256Free PMC Article
Shi Y, Wang C
Front Immunol 2021;12:679556. Epub 2021 May 25 doi: 10.3389/fimmu.2021.679556. PMID: 34113351Free PMC Article
Abd Hamid IJ, Azman NA, Gennery AR, Mangantig E, Hashim IF, Zainudeen ZT
Front Immunol 2020;11:1923. Epub 2020 Aug 26 doi: 10.3389/fimmu.2020.01923. PMID: 32983118Free PMC Article
Lee YT, Chuang ML
J Infect Dev Ctries 2018 Oct 31;12(10):824-834. doi: 10.3855/jidc.10357. PMID: 32004150
Shaghaghi M, Soleyman-Jahi S, Abolhassani H, Yazdani R, Azizi G, Rezaei N, Barbouche MR, McKinlay MA, Aghamohammadi A
Vaccine 2018 Mar 20;36(13):1711-1719. Epub 2018 Feb 23 doi: 10.1016/j.vaccine.2018.02.059. PMID: 29478755

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