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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

Lessons from Epstein-Barr virus DNA detection in cerebrospinal fluid as a diagnostic tool for EBV-induced central nervous system dysfunction among HIV-positive patients.
Wang Y, Yang J, Wen Y
Biomed Pharmacother 2022 Jan;145:112392. Epub 2021 Nov 12 doi: 10.1016/j.biopha.2021.112392. PMID: 34781140
A Review of Autoimmune Enteropathy and Its Associated Syndromes.
Chen CB, Tahboub F, Plesec T, Kay M, Radhakrishnan K
Dig Dis Sci 2020 Nov;65(11):3079-3090. Epub 2020 Aug 24 doi: 10.1007/s10620-020-06540-8. PMID: 32833153
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
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
AIDS-associated lymphoma.
Kaplan LD
Baillieres Clin Haematol 1990 Jan;3(1):139-51. doi: 10.1016/s0950-3536(05)80085-x. PMID: 2182138

Prognosis

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
AIDS-associated lymphoma.
Kaplan LD
Baillieres Clin Haematol 1990 Jan;3(1):139-51. doi: 10.1016/s0950-3536(05)80085-x. PMID: 2182138

Clinical prediction guides

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
Nocardiosis: updated clinical review and experience at a tertiary center.
Ambrosioni J, Lew D, Garbino J
Infection 2010 Apr;38(2):89-97. Epub 2010 Mar 20 doi: 10.1007/s15010-009-9193-9. PMID: 20306281
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
AIDS-associated lymphoma.
Kaplan LD
Baillieres Clin Haematol 1990 Jan;3(1):139-51. doi: 10.1016/s0950-3536(05)80085-x. PMID: 2182138

Recent systematic reviews

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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