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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

Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry.
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

Diagnosing Omenn syndrome.
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
How I manage patients with Wiskott Aldrich syndrome.
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
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
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
Focal Segmental Glomerulosclerosis.
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
Ligase IV syndrome.
Chistiakov DA
Adv Exp Med Biol 2010;685:175-85. doi: 10.1007/978-1-4419-6448-9_16. PMID: 20687505

Diagnosis

Assessment and Diagnosis of HIV-Associated Dementia.
Cornea A, Lata I, Simu M, Rosca EC
Viruses 2023 Jan 28;15(2) doi: 10.3390/v15020378. PMID: 36851592Free PMC Article
Diagnosing Omenn syndrome.
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
How I manage patients with Wiskott Aldrich syndrome.
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
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
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
Ataxia telangiectasia: a review.
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

The treatment of Burkitt lymphoma in adults.
Crombie J, LaCasce A
Blood 2021 Feb 11;137(6):743-750. doi: 10.1182/blood.2019004099. PMID: 33171490
Focal Segmental Glomerulosclerosis.
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
Gene therapy for PIDs: progress, pitfalls and prospects.
Mukherjee S, Thrasher AJ
Gene 2013 Aug 10;525(2):174-81. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.098. PMID: 23566838Free PMC Article
HIV-associated Hodgkin lymphoma.
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
Tuberculosis in the elderly.
Rajagopalan S, Yoshikawa TT
Z Gerontol Geriatr 2000 Oct;33(5):374-80. doi: 10.1007/s003910070034. PMID: 11130191

Prognosis

Pregnancy in primary immunodeficiency diseases: The PREPI study.
Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group
J Allergy Clin Immunol 2023 Sep;152(3):760-770. Epub 2023 May 18 doi: 10.1016/j.jaci.2023.05.006. PMID: 37210041
The treatment of Burkitt lymphoma in adults.
Crombie J, LaCasce A
Blood 2021 Feb 11;137(6):743-750. doi: 10.1182/blood.2019004099. PMID: 33171490
The clinical features and prognosis of 100 AIDS-related lymphoma cases.
Wu D, Chen C, Zhang M, Li Z, Wang S, Shi J, Zhang Y, Yao D, Hu S
Sci Rep 2019 Mar 29;9(1):5381. doi: 10.1038/s41598-019-41869-9. PMID: 30926889Free PMC Article
Focal Segmental Glomerulosclerosis.
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
Ataxia telangiectasia: a review.
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

Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort.
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
Assessment and Diagnosis of HIV-Associated Dementia.
Cornea A, Lata I, Simu M, Rosca EC
Viruses 2023 Jan 28;15(2) doi: 10.3390/v15020378. PMID: 36851592Free PMC Article
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH
Front Immunol 2019;10:2079. Epub 2019 Aug 30 doi: 10.3389/fimmu.2019.02079. PMID: 31543881Free PMC Article
HIV-associated Hodgkin lymphoma.
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
Tuberculosis in the elderly.
Rajagopalan S, Yoshikawa TT
Z Gerontol Geriatr 2000 Oct;33(5):374-80. doi: 10.1007/s003910070034. PMID: 11130191

Recent systematic reviews

HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.
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
When the Good Syndrome Goes Bad: A Systematic Literature Review.
Shi Y, Wang C
Front Immunol 2021;12:679556. Epub 2021 May 25 doi: 10.3389/fimmu.2021.679556. PMID: 34113351Free PMC Article
Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979-2020.
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
Pneumocystis jirovecii pneumonia in AIDS and non-AIDS immunocompromised patients - an update.
Lee YT, Chuang ML
J Infect Dev Ctries 2018 Oct 31;12(10):824-834. doi: 10.3855/jidc.10357. PMID: 32004150
New insights into physiopathology of immunodeficiency-associated vaccine-derived poliovirus infection; systematic review of over 5 decades of data.
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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