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Syndrome with combined immunodeficiency

MedGen UID:
799724
•Concept ID:
CN204279
•
Disease or Syndrome
Orphanet: ORPHA331217

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndrome with combined immunodeficiency
Follow this link to review classifications for Syndrome with combined immunodeficiency in Orphanet.

Professional guidelines

PubMed

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT
J Clin Immunol 2015 Feb;35(2):189-98. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0126-0. PMID: 25627830

Recent clinical studies

Etiology

Primary and secondary defects of the thymus.
Dinges SS, Amini K, Notarangelo LD, Delmonte OM
Immunol Rev 2024 Mar;322(1):178-211. Epub 2024 Jan 16 doi: 10.1111/imr.13306. PMID: 38228406Free PMC Article
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Combined immunodeficiencies.
Aranda CS, Guimarães RR, de Gouveia-Pereira Pimentel M
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S39-S48. Epub 2020 Dec 17 doi: 10.1016/j.jped.2020.10.014. PMID: 33340461Free PMC Article
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Diagnosis

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):539-546. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.022. PMID: 36456361Free PMC Article
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Combined immunodeficiencies.
Aranda CS, Guimarães RR, de Gouveia-Pereira Pimentel M
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S39-S48. Epub 2020 Dec 17 doi: 10.1016/j.jped.2020.10.014. PMID: 33340461Free PMC Article
Approach to primary immunodeficiency.
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396Free PMC Article
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Therapy

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.
Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Subcutaneous Administration of Biotherapeutics: An Overview of Current Challenges and Opportunities.
Bittner B, Richter W, Schmidt J
BioDrugs 2018 Oct;32(5):425-440. doi: 10.1007/s40259-018-0295-0. PMID: 30043229Free PMC Article
Primary immunodeficiencies.
Notarangelo LD
J Allergy Clin Immunol 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29 doi: 10.1016/j.jaci.2009.07.053. PMID: 20042228
Primary immunodeficiencies.
Cooper MA, Pommering TL, Korányi K
Am Fam Physician 2003 Nov 15;68(10):2001-8. PMID: 14655810

Prognosis

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369Free PMC Article
Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe.
Pac M, Casanova JL, Reisli I, Maródi L
Front Immunol 2021;12:667727. Epub 2021 May 14 doi: 10.3389/fimmu.2021.667727. PMID: 34084169Free PMC Article
Combined immunodeficiencies.
Aranda CS, Guimarães RR, de Gouveia-Pereira Pimentel M
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S39-S48. Epub 2020 Dec 17 doi: 10.1016/j.jped.2020.10.014. PMID: 33340461Free PMC Article
Primary immunodeficiencies.
Cooper MA, Pommering TL, Korányi K
Am Fam Physician 2003 Nov 15;68(10):2001-8. PMID: 14655810
Non-Hodgkin's lymphomas.
Haller DG
Med Clin North Am 1984 May;68(3):741-56. doi: 10.1016/s0025-7125(16)31126-9. PMID: 6205233

Clinical prediction guides

Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.
Anginot A, Nguyen J, Abou Nader Z, Rondeau V, Bonaud A, Kalogeraki M, Boutin A, Lemos JP, Bisio V, Koenen J, Hanna Doumit Sakr L, Picart A, Coudert A, Provot S, Dulphy N, Aurrand-Lions M, Mancini SJC, Lazennec G, McDermott DH, Guidez F, Blin-Wakkach C, Murphy PM, Cohen-Solal M, Espéli M, Rouleau M, Balabanian K
Nat Commun 2023 Apr 12;14(1):2058. doi: 10.1038/s41467-023-37791-4. PMID: 37045841Free PMC Article
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article
HIV and the spectrum of human disease.
Lucas S, Nelson AM
J Pathol 2015 Jan;235(2):229-41. doi: 10.1002/path.4449. PMID: 25251832
DOCK8 deficiency.
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427

Recent systematic reviews

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.
Biglari S, Moghaddam AS, Tabatabaiefar MA, Sherkat R, Youssefian L, Saeidian AH, Vahidnezhad F, Tsoi LC, Gudjonsson JE, Hakonarson H, Casanova JL, Béziat V, Jouanguy E, Vahidnezhad H
Genet Med 2024 Feb;26(2):101028. Epub 2023 Nov 14 doi: 10.1016/j.gim.2023.101028. PMID: 37978863Free PMC Article
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369Free PMC Article
Acupuncture for the Treatment of Peripheral Neuropathy: A Systematic Review and Meta-Analysis.
Dimitrova A, Murchison C, Oken B
J Altern Complement Med 2017 Mar;23(3):164-179. Epub 2017 Jan 23 doi: 10.1089/acm.2016.0155. PMID: 28112552Free PMC Article
A Systematic Review and Meta-Analysis of the Efficacy of Anti-Toxoplasma gondii Medicines in Humans.
Wei HX, Wei SS, Lindsay DS, Peng HJ
PLoS One 2015;10(9):e0138204. Epub 2015 Sep 22 doi: 10.1371/journal.pone.0138204. PMID: 26394212Free PMC Article
Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free PMC Article

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