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Defects in Intrinsic and Innate Immunity

MedGen UID:
1782051
•Concept ID:
C5447319
•
Disease or Syndrome

Definition

A group of diseases or disorders caused by genetic defects within the immune system, comprised by: Mendelian susceptibility to mycobacterial disease (MSMD); Epidermodysplasia verruciformis (HPV); Predisposition to severe viral infection; Herpes simplex encephalitis (HSE); Predisposition to invasive fungal diseases; Predisposition to mucocutaneous candidiasis; TLR signaling pathway deficiencies with bacterial susceptibility; and other inborn errors of immunity related to nonhematopoietic tissues. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefects in Intrinsic and Innate Immunity

Professional guidelines

PubMed

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
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

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
The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.
Shendi HM, Al Kuwaiti AA, Al Dhaheri AD, Al-Hammadi S
Front Immunol 2022;13:837243. Epub 2022 Jan 31 doi: 10.3389/fimmu.2022.837243. PMID: 35173743Free 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
A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.
Bandari AK, Muthusamy B, Bhat S, Govindaraj P, Rajagopalan P, Dalvi A, Shankar S, Raja R, Reddy KS, Madkaikar M, Pandey A
Front Immunol 2019;10:1964. Epub 2019 Aug 21 doi: 10.3389/fimmu.2019.01964. PMID: 31497017Free 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

Diagnosis

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
The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.
Shendi HM, Al Kuwaiti AA, Al Dhaheri AD, Al-Hammadi S
Front Immunol 2022;13:837243. Epub 2022 Jan 31 doi: 10.3389/fimmu.2022.837243. PMID: 35173743Free 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
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y
Front Immunol 2021;12:654406. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.654406. PMID: 33777053Free 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

Therapy

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

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

Recent systematic reviews

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
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y
Front Immunol 2021;12:654406. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.654406. PMID: 33777053Free 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

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