KEGG DISEASE: Primary immunodeficiency disease

DISEASE: Primary immunodeficiency disease

Entry

H01725                      Disease

Name

Primary immunodeficiency disease

Subgroup

Disorders of innate immunity [DS:H02525]
Disorders of adaptive immunity [DS:H02526]
Other well-defined immunodeficiency syndromes [DS:H00107]

Description

Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H01725  Primary immunodeficiency disease
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01725  Primary immunodeficiency disease

Disease
pathway

hsa05340

Primary immunodeficiency

Gene

(IMD101) POLR3F [HSA:10621] [KO:K03025]
(IMD102) SASH3 [HSA:54440] [KO:K23706]
(IMD109) TNFRSF9 [HSA:3604] [KO:K05146]
(IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656]
(IMD113) ARPC5 [HSA:10092] [KO:K05754]
(IMD114) SLC19A1 [HSA:6573] [KO:K14609]
(IMD118) MCTS1 [HSA:28985] [KO:K07575]

Other DBs

ICD-11:

4A00 4A01

ICD-10:

D80 D81 D82 D84

MeSH:

D000081207

OMIM:

619872 301082 620282 620331 620565 620603 301115

Reference

PMID:22165913

Authors

McCusker C, Warrington R

Title

Primary immunodeficiency.

Journal

Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11

Reference

PMID:23942400

Authors

Madkaikar M, Mishra A, Ghosh K

Title

Diagnostic approach to primary immunodeficiency disorders.

Journal

Indian Pediatr 50:579-86 (2013)
DOI:10.1007/s13312-013-0171-4

Reference

PMID:30211253 (IMD101)

Authors

Carter-Timofte ME, Hansen AF, Mardahl M, Fribourg S, Rapaport F, Zhang SY, Casanova JL, Paludan SR, Christiansen M, Larsen CS, Mogensen TH

Title

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Journal

Neurol Neuroimmunol Neuroinflamm 5:e500 (2018)
DOI:10.1212/NXI.0000000000000500

Reference

PMID:33876203 (IMD102)

Authors

Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD

Title

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Journal

Blood 138:1019-1033 (2021)
DOI:10.1182/blood.2020008629

Reference

PMID:30872117 (IMD109)

Authors

Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, Debatin KM, Schulz A, Jacobsen E, Moller P, Shamseldin HE, Abdulwahab F, Ibrahim N, Alardati H, Almuhizi F, Abosoudah IF, Basha TA, Chou J, Alkuraya FS, Geha RS

Title

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

Journal

J Allergy Clin Immunol 144:574-583.e5 (2019)
DOI:10.1016/j.jaci.2019.03.002

Reference

PMID:36112693 (IMD111)

Authors

Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoglu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B

Title

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.

Journal

Sci Immunol 7:eabi4611 (2022)
DOI:10.1126/sciimmunol.abi4611

Reference

PMID:37349293 (IMD113)

Authors

Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD

Title

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Journal

Nat Commun 14:3708 (2023)
DOI:10.1038/s41467-023-39272-0

Reference

PMID:36745868 (IMD114)

Authors

Shiraishi A, Uygun V, Sharfe N, Beldar S, Sun MGF, Dadi H, Vong L, Maxson M, Karaca NE, Mevlitoglu S, Grinstein S, Artan R, Merico D, Roifman CM

Title

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Journal

Blood 141:3226-3230 (2023)
DOI:10.1182/blood.2022017968

Reference

PMID:37875108 (IMD118)

Authors

Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagaric I, Materna M, Gervais A, Li H, Rosain J, Peel JN, Seeleuthner Y, Han JE, L'Honneur AS, Moncada-Velez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Saxen H, ElGhazali G, Yatim A, Soudee C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Beziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL

Title

Human MCTS1-dependent translation of JAK2 is essential for IFN-gamma immunity to mycobacteria.

Journal

Cell 186:5114-5134.e27 (2023)
DOI:10.1016/j.cell.2023.09.024

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