Details of Disease

Disease Name

Inborn error of immunity

syndromes, immunological deficiency; syndromes, immunologic deficiency; syndromes, antibody deficiency; syndrome, immunological deficiency; syndrome, immunologic deficiency; syndrome, antibody deficiency; primary immunodeficiency; immunological deficiency syndromes; immunological deficiency syndrome; immunologic deficiency syndrome; immunodeficiency syndrome; immune deficiency disorder; deficiency syndromes, immunological; deficiency syndromes, immunologic; deficiency syndromes, antibody; deficiency syndrome, immunological; deficiency syndrome, immunologic; deficiency syndrome, antibody; antibody deficiency syndromes; antibody deficiency syndrome; primary immunodeficiency disease; inborn errors of immunity; hypoimmunity; IEI

Definition

A disorder in which the immune system is unable to mount an adequate immune response.

Disease Hierarchy

:

DISNGCMN: Inborn error of immunity

Disease Identifiers

MONDO ID

MONDO_0003778

MESH ID

D000081207

UMLS CUI

C0398686

MedGen ID

585013

Orphanet ID

101997

SNOMED CT ID

58606001

General Information of Disease (ID: DISNGCMN)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BTK	TTGM6VW	Limited	Genetic Variation	[1]
RIPK1	TTVJHX8	Limited	CausalMutation	[2]
ADA	TTLP57V	Strong	Genetic Variation	[3]
CD40LG	TTIJP3Q	Strong	Biomarker	[4]
IFNGR2	TT13TL0	Strong	Biomarker	[5]
IL21R	TTZO9B0	Strong	Biomarker	[6]
MAP3K14	TT4LIAC	Strong	Genetic Variation	[7]
TCF3	TTULOD8	Strong	Biomarker	[8]
TPP2	TTQ7R2V	Strong	Biomarker	[9]
IRAK4	TTILUKB	Definitive	Biomarker	[10]
WAS	TTE8T73	Definitive	Biomarker	[11]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM3	DER0EN5	Strong	Genetic Variation	[12]
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This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DOCK8	OTNQLL21	Limited	Biomarker	[13]
RAG1	OTV131E4	Limited	Genetic Variation	[14]
RAG2	OTG9UYTW	Limited	Genetic Variation	[14]
CARD11	OTRCTLYC	Strong	Genetic Variation	[15]
CARD9	OTJ81AWD	Strong	Biomarker	[16]
CARMIL2	OTV5S1J2	Strong	Biomarker	[17]
COL17A1	OTID5AH2	Strong	Biomarker	[18]
DESI1	OTFNIW98	Strong	Biomarker	[19]
IFNGR1	OTCTQBWW	Strong	Genetic Variation	[20]
IKBKG	OTNWJWSD	Strong	Genetic Variation	[21]
IKZF1	OTCW1FKL	Strong	Genetic Variation	[22]
IL2RG	OTRZ3OMY	Strong	Genetic Variation	[14]
LAD1	OT6YGTVX	Strong	Biomarker	[18]
MSN	OTZJ4J6G	Strong	Biomarker	[23]
MYSM1	OTO73N00	Strong	Biomarker	[24]
NBAS	OTW9IBRI	Strong	Genetic Variation	[25]
PHEX	OTG7N3J7	Strong	Biomarker	[26]
SEC14L2	OTJST64D	Strong	Genetic Variation	[27]
SLC35G1	OTKZUA8O	Strong	Biomarker	[19]
STX11	OTHFRSFP	Strong	Biomarker	[28]
STXBP2	OTX8GUC4	Strong	Genetic Variation	[28]
TAOK2	OTNUMOZ1	Strong	Genetic Variation	[29]
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⏷ Show the Full List of 22 DOT(s)

References

1	Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.Scand J Immunol. 2018 Mar;87(3). doi: 10.1111/sji.12647.
2	Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27.
3	ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9.
4	Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.
5	Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.J Med Genet. 2010 Sep;47(9):631-4. doi: 10.1136/jmg.2009.072108. Epub 2010 Jun 28.
6	Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency.Curr Opin Pediatr. 2014 Dec;26(6):704-12. doi: 10.1097/MOP.0000000000000160.
7	Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. Nat Commun. 2014 Nov 19;5:5360. doi: 10.1038/ncomms6360.
8	Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.Clin Transl Immunology. 2017 Oct 20;6(10):e159. doi: 10.1038/cti.2017.41. eCollection 2017 Oct.
9	Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20.
10	Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings.Pediatr Infect Dis J. 2015 Mar;34(3):299-300. doi: 10.1097/INF.0000000000000550.
11	Wiskott-Aldrich syndrome protein senses irradiation-induced DNA damage to coordinate the cell-protective Golgi dispersal response in human T and B lymphocytes.J Allergy Clin Immunol. 2020 Jan;145(1):324-334. doi: 10.1016/j.jaci.2019.09.026. Epub 2019 Oct 9.
12	Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002. Epub 2015 Oct 19.
13	DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan.BMC Med Genet. 2019 Jun 26;20(1):114. doi: 10.1186/s12881-019-0837-4.
14	Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.Microb Pathog. 2017 Aug;109:114-119. doi: 10.1016/j.micpath.2017.05.033. Epub 2017 May 25.
15	Mechanisms of Regulated and Dysregulated CARD11 Signaling in Adaptive Immunity and Disease.Front Immunol. 2018 Sep 19;9:2105. doi: 10.3389/fimmu.2018.02105. eCollection 2018.
16	A young girl with severe cerebral fungal infection due to card 9 deficiency.Clin Immunol. 2018 Jun;191:21-26. doi: 10.1016/j.clim.2018.01.002. Epub 2018 Jan 4.
17	A human immunodeficiency syndrome caused by mutations in CARMIL2.Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209.
18	Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a leukocyte adhesion deficiency type I patient.Pediatr Transplant. 2011 Mar;15(2):E30-3. doi: 10.1111/j.1399-3046.2009.01239.x.
19	Growth hormone insensitivity resulting from post-GH receptor defects.Growth Horm IGF Res. 2004 Jun;14 Suppl A:S35-8. doi: 10.1016/j.ghir.2004.03.009.
20	IFN-R1 defects: Mutation update and description of the IFNGR1 variation database.Hum Mutat. 2017 Oct;38(10):1286-1296. doi: 10.1002/humu.23302. Epub 2017 Aug 3.
21	Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.J Mol Diagn. 2018 Mar;20(2):195-202. doi: 10.1016/j.jmoldx.2017.10.005. Epub 2017 Dec 18.
22	Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.Front Immunol. 2019 Apr 16;10:568. doi: 10.3389/fimmu.2019.00568. eCollection 2019.
23	Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.Front Immunol. 2018 Mar 5;9:420. doi: 10.3389/fimmu.2018.00420. eCollection 2018.
24	Neutrophilic Panniculitis in a child with MYSM1 deficiency.Pediatr Dermatol. 2019 Mar;36(2):258-259. doi: 10.1111/pde.13757. Epub 2019 Feb 12.
25	Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.Front Immunol. 2019 Aug 27;10:1955. doi: 10.3389/fimmu.2019.01955. eCollection 2019.
26	X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res. 2008;40(3):262-70. doi: 10.1007/s12026-007-0028-9.
27	Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome.Pediatr Dermatol. 2018 Nov;35(6):e375-e377. doi: 10.1111/pde.13676. Epub 2018 Sep 6.
28	Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes.Traffic. 2015 Dec;16(12):1330-41. doi: 10.1111/tra.12337. Epub 2015 Nov 2.
29	RETRACTED: Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation.J Dermatol Sci. 2017 Aug;87(2):123-129. doi: 10.1016/j.jdermsci.2017.03.018. Epub 2017 Mar 27.