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Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency

MedGen UID:
1786515
•Concept ID:
C5447322
•
Disease or Syndrome

Definition

A group of immunodeficiency disorders that include combined immunodeficiencies (CIDs) generally less profound than SCID. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiencies Affecting Cellular and Humoral Immunity - 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
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
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

Recent clinical studies

Etiology

Epidemiology of combined immunodeficiencies affecting cellular and humoral immunity- a multicentric retrospective cohort study from the Arabian Peninsula.
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
Clin Immunol 2023 Sep;254:109696. Epub 2023 Jul 20 doi: 10.1016/j.clim.2023.109696. PMID: 37481010
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
BCG Vaccine-associated Complications in a Large Cohort of Children With Combined Immunodeficiencies Affecting Cellular and Humoral Immunity.
Al-Herz W, Husain EH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Infect Dis J 2022 Nov 1;41(11):933-937. Epub 2022 Sep 7 doi: 10.1097/INF.0000000000003678. PMID: 36102730
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

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
Epidemiology of combined immunodeficiencies affecting cellular and humoral immunity- a multicentric retrospective cohort study from the Arabian Peninsula.
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
Clin Immunol 2023 Sep;254:109696. Epub 2023 Jul 20 doi: 10.1016/j.clim.2023.109696. PMID: 37481010
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
BCG Vaccine-associated Complications in a Large Cohort of Children With Combined Immunodeficiencies Affecting Cellular and Humoral Immunity.
Al-Herz W, Husain EH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Infect Dis J 2022 Nov 1;41(11):933-937. Epub 2022 Sep 7 doi: 10.1097/INF.0000000000003678. PMID: 36102730

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
BCG Vaccine-associated Complications in a Large Cohort of Children With Combined Immunodeficiencies Affecting Cellular and Humoral Immunity.
Al-Herz W, Husain EH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, Al-Nesf M, Al Sukaiti N, Al-Tamemi S, Shendi H
Pediatr Infect Dis J 2022 Nov 1;41(11):933-937. Epub 2022 Sep 7 doi: 10.1097/INF.0000000000003678. PMID: 36102730
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM, Chear CT, Baharin MF, Nallusamy R, Chan KC, Kassim A, Choo CM, Wong KJ, Fong SM, Tan KK, Nachiappan JP, Teo KR, Chiow MY, Hishamshah M, Ghani H, Muralitharan RR, Mohamad SB
Clin Exp Immunol 2021 Nov;206(2):119-128. Epub 2021 Jul 13 doi: 10.1111/cei.13626. PMID: 34060650Free PMC Article
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
Assessment of the Safety and Immunogenicity of 2 Novel Vaccine Platforms for HIV-1 Prevention: A Randomized Trial.
Baden LR, Karita E, Mutua G, Bekker LG, Gray G, Page-Shipp L, Walsh SR, Nyombayire J, Anzala O, Roux S, Laher F, Innes C, Seaman MS, Cohen YZ, Peter L, Frahm N, McElrath MJ, Hayes P, Swann E, Grunenberg N, Grazia-Pau M, Weijtens M, Sadoff J, Dally L, Lombardo A, Gilmour J, Cox J, Dolin R, Fast P, Barouch DH, Laufer DS; B003-IPCAVD004-HVTN091 Study Group
Ann Intern Med 2016 Mar 1;164(5):313-22. Epub 2016 Feb 2 doi: 10.7326/M15-0880. PMID: 26833336Free 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
COVID-19 in multiple-myeloma patients: cellular and humoral immunity against SARS-CoV-2 in a short- and long-term view.
von Metzler I, Campe J, Huenecke S, Raab MS, Goldschmidt H, Schubert R, Rabenau HF, Ciesek S, Serve H, Ullrich E
J Mol Med (Berl) 2022 Mar;100(3):463-470. Epub 2021 Oct 18 doi: 10.1007/s00109-021-02114-x. PMID: 34657968Free PMC Article
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
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
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD
N Engl J Med 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462. PMID: 26083206Free PMC Article

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
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A, Distelmaier F, Gujar J, Indolfi G, Lurz E, Peters B, Schwerd T, Serranti D, Kölker S, Klein C, Hoffmann GF, Prokisch H, Greil J, Cerwenka A, Giese T, Staufner C
J Clin Immunol 2021 Nov;41(8):1781-1793. Epub 2021 Aug 13 doi: 10.1007/s10875-021-01110-7. PMID: 34386911Free PMC Article
Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency.
Keller B, Cseresnyes Z, Stumpf I, Wehr C, Fliegauf M, Bulashevska A, Usadel S, Grimbacher B, Rizzi M, Eibel H, Niesner R, Warnatz K
J Allergy Clin Immunol 2017 Jan;139(1):220-231.e8. Epub 2016 Jun 14 doi: 10.1016/j.jaci.2016.04.043. PMID: 27461466
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

Recent systematic reviews

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

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