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Inborn error of immunity

MedGen UID:: 585013
•Concept ID:: C0398686
•: Disease or Syndrome

Synonyms:	Inborn errors of immunity; Primary immunodeficiency
SNOMED CT:	Primary immunodeficiency (58606001); Primary immune deficiency disorder (58606001)

Monarch Initiative:	MONDO:0003778
Orphanet:	ORPHA101997

Definition

Immunodeficiency disease that arises independent of another pathologic process, disease, or injury. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInborn error of immunity

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of immune system physiology
    - Immunodeficiency
      - Inborn error of immunity
        Ataxia-telangiectasia syndrome
        Bloom syndrome
        Chédiak-Higashi syndrome
        Aleutian mink disease
        Hereditary Complement Deficiency Diseases
        Hereditary angioneurotic edema
        Hereditary angioedema type 1
        Hereditary angioedema type 3
        Hereditary Angioedema Types I and II
        Hereditary angioedema with C1Inh deficiency
        Hereditary angioedema with normal C1Inh
        Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
        Hyper-IgE syndrome
        CADINS disease
        DOCK8 Deficiency
        Hyper-IgE recurrent infection syndrome 1, autosomal dominant
        Immunodeficiency 23
        Netherton syndrome
        Severe dermatitis-multiple allergies-metabolic wasting syndrome
        STAT3 Deficiency
        Hyperimmunoglobulin M syndrome
        Hyper-IgM syndrome type 1
        Hyper-IgM syndrome type 2
        Hyper-IgM syndrome type 3
        Leukocyte-Adhesion Deficiency Syndrome
        Severe combined immunodeficiency disease
        Adenosine deaminase deficiency
        Athabaskan severe combined immunodeficiency
        Histiocytic medullary reticulosis
        Leaky Severe Combined Immunodeficiency
        MHC Class II Deficiency
        Purine-nucleoside phosphorylase deficiency
        SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)
        MHC class I deficiency
        MHC class II deficiency
        Severe combined immunodeficiency due to DNA-PKcs deficiency
        Severe Combined Immunodeficiency with Absence of T and B Cells
        Severe Combined Immunodeficiency due to RAG1 Deficiency
        Severe Combined Immunodeficiency due to RAG2 Deficiency
        Severe Combined Immunodeficiency with Absence of T, Normal B Cells
        Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
        Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive
        Severe Combined Immunodeficiency due to CD45 Deficiency
        Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
        T-B+ severe combined immunodeficiency due to JAK3 deficiency
        X-linked severe combined immunodeficiency
        Wiskott-Aldrich syndrome

Professional guidelines

PubMed

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.

Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497 Free PMC Article

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790 Free PMC Article

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.

Bucciol G, Meyts I
F1000Res 2020;9 Epub 2020 Mar 19 doi: 10.12688/f1000research.21553.1. PMID: 32226610 Free PMC Article

See all (18)

Recent clinical studies

Etiology

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.

Rao VK, Webster S, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Conlon N, Coulter T, Dalm VA, Trizzino A, Zharankova Y, Kulm E, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Kucher K, Relan A, Holland SM, Lenardo MJ, Uzel G
Blood 2023 Mar 2;141(9):971-983. doi: 10.1182/blood.2022018546. PMID: 36399712 Free PMC Article

Defining and targeting patterns of T cell dysfunction in inborn errors of immunity.

Campos JS, Henrickson SE
Front Immunol 2022;13:932715. Epub 2022 Sep 14 doi: 10.3389/fimmu.2022.932715. PMID: 36189259 Free PMC Article

Quercetin ameliorates XIAP deficiency-associated hyperinflammation.

Chiang SCC, Owsley E, Panchal N, Chaturvedi V, Terrell CE, Jordan MB, Mehta PA, Davies SM, Akeno N, Booth C, Marsh RA
Blood 2022 Aug 18;140(7):706-715. doi: 10.1182/blood.2021014335. PMID: 35687753

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S, Sharapova SO, Milota T, Greif PA, Magg T, Hauck F
J Allergy Clin Immunol Pract 2022 Jul;10(7):1725-1736.e2. Epub 2022 Mar 29 doi: 10.1016/j.jaip.2022.03.012. PMID: 35364342

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.

Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2021 Nov;148(5):1332-1341.e5. Epub 2021 Apr 23 doi: 10.1016/j.jaci.2021.04.015. PMID: 33895260

See all (61)

Diagnosis

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.

Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497 Free PMC Article

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S, Sharapova SO, Milota T, Greif PA, Magg T, Hauck F
J Allergy Clin Immunol Pract 2022 Jul;10(7):1725-1736.e2. Epub 2022 Mar 29 doi: 10.1016/j.jaip.2022.03.012. PMID: 35364342

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.

Bucciol G, Meyts I
F1000Res 2020;9 Epub 2020 Mar 19 doi: 10.12688/f1000research.21553.1. PMID: 32226610 Free PMC Article

CD40 Ligand Deficiency.

Leite LFB, Máximo TA, Mosca T, Forte WCN
Allergol Immunopathol (Madr) 2020 Jul-Aug;48(4):409-413. Epub 2019 Dec 9 doi: 10.1016/j.aller.2019.08.005. PMID: 31831191

See all (113)

Therapy

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.

Secondary rituximab-associated versus primary immunodeficiencies: The enigmatic border.

Ottaviano G, Sgrulletti M, Moschese V
Eur J Immunol 2022 Oct;52(10):1572-1580. Epub 2022 Aug 10 doi: 10.1002/eji.202149667. PMID: 35892275

Quercetin ameliorates XIAP deficiency-associated hyperinflammation.

Chiang SCC, Owsley E, Panchal N, Chaturvedi V, Terrell CE, Jordan MB, Mehta PA, Davies SM, Akeno N, Booth C, Marsh RA
Blood 2022 Aug 18;140(7):706-715. doi: 10.1182/blood.2021014335. PMID: 35687753

Human genetics of SARS-CoV-2 infection and critical COVID-19.

Mogensen TH
Clin Microbiol Infect 2022 Nov;28(11):1417-1421. Epub 2022 Feb 24 doi: 10.1016/j.cmi.2022.02.022. PMID: 35218979 Free PMC Article

Genetic susceptibility to viral disease in humans.

Mogensen TH
Clin Microbiol Infect 2022 Nov;28(11):1411-1416. Epub 2022 Feb 24 doi: 10.1016/j.cmi.2022.02.023. PMID: 35218976

See all (27)

Prognosis

Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets.

Cortesi M, Soresina A, Dotta L, Gorio C, Cattalini M, Lougaris V, Porta F, Badolato R
Front Immunol 2022;13:846660. Epub 2022 Apr 6 doi: 10.3389/fimmu.2022.846660. PMID: 35464467 Free PMC Article

Human genetics of SARS-CoV-2 infection and critical COVID-19.

Mogensen TH
Clin Microbiol Infect 2022 Nov;28(11):1417-1421. Epub 2022 Feb 24 doi: 10.1016/j.cmi.2022.02.022. PMID: 35218979 Free PMC Article

Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.

Stadler PC, Renner ED, Milner J, Wollenberg A
J Allergy Clin Immunol Pract 2021 Apr;9(4):1501-1507. Epub 2021 Feb 3 doi: 10.1016/j.jaip.2021.01.037. PMID: 33548520

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Human genetics of infectious diseases: Unique insights into immunological redundancy.

Casanova JL, Abel L
Semin Immunol 2018 Apr;36:1-12. Epub 2017 Dec 16 doi: 10.1016/j.smim.2017.12.008. PMID: 29254755 Free PMC Article

See all (38)

Clinical prediction guides

STAT3-confusion-of-function: Beyond the loss and gain dualism.

Lodi L, Faletti LE, Maccari ME, Consonni F, Groß M, Pagnini I, Ricci S, Heeg M, Simonini G, Azzari C, Ehl S
J Allergy Clin Immunol 2022 Nov;150(5):1237-1241.e3. Epub 2022 Jun 21 doi: 10.1016/j.jaci.2022.06.007. PMID: 35750105

Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease.

Kelsen J, Dawany N, Conrad M, Patel T, Devoto M, Maurer K, Sullivan KE
Clin Immunol 2022 Jul;240:109047. Epub 2022 May 22 doi: 10.1016/j.clim.2022.109047. PMID: 35613698

Clinical Profile of Hyper-IgE Syndrome in India.

Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144 Free PMC Article

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Human genetics of infectious diseases: Unique insights into immunological redundancy.

Casanova JL, Abel L
Semin Immunol 2018 Apr;36:1-12. Epub 2017 Dec 16 doi: 10.1016/j.smim.2017.12.008. PMID: 29254755 Free PMC Article

See all (51)

Recent systematic reviews

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.

Sharifinejad N, Zaki-Dizaji M, Tebyanian S, Zainaldain H, Jamee M, Rizvi FS, Hosseinzadeh S, Fayyaz F, Hamedifar H, Sabzevari A, Matloubi M, Heropolitańska-Pliszka E, Aghamahdi F, Abolhassani H, Azizi G
Expert Rev Clin Immunol 2021 Aug;17(8):807-817. Epub 2021 Jun 3 doi: 10.1080/1744666X.2021.1925543. PMID: 33957837

Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.

Rizvi FS, Zainaldain H, Rafiemanesh H, Jamee M, Hossein-Khannazer N, Hamedifar H, Sabzevari A, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Expert Rev Clin Immunol 2020 Dec;16(12):1227-1235. Epub 2020 Dec 7 doi: 10.1080/1744666X.2021.1850272. PMID: 33203275

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: 32983118 Free PMC Article

Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.

Jamee M, Zaki-Dizaji M, Lo B, Abolhassani H, Aghamahdi F, Mosavian M, Nademi Z, Mohammadi H, Jadidi-Niaragh F, Rojas M, Anaya JM, Azizi G
J Allergy Clin Immunol Pract 2020 Sep;8(8):2747-2760.e7. Epub 2020 May 16 doi: 10.1016/j.jaip.2020.04.070. PMID: 32428713

See all (4)

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Inborn error of immunity

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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