Top

Published in:

Open Access 01-04-2021 | Primary Immunodeficiency | Original Article

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Authors: Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R. J. Seppänen, Raz Somech, Helen C Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts

Published in: Journal of Clinical Immunology | Issue 3/2021

Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Human inborn errors of immunity: an expanding universe. Sci Immunol. 2020;5(49):eabb1662. https://doi.org/10.1126/sciimmunol.abb1662.CrossRefPubMedPubMedCentral

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66–81. https://doi.org/10.1007/s10875-020-00758-x.CrossRefPubMedPubMedCentral

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64. https://doi.org/10.1007/s10875-019-00737-x.CrossRefPubMedPubMedCentral

Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138(4):957–69. https://doi.org/10.1016/j.jaci.2016.08.003.CrossRefPubMedPubMedCentral

Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM, et al. PAX1 is essential for development and function of the human thymus. Sci Immunol. 2020;5(44):eaax1036. https://doi.org/10.1126/sciimmunol.aax1036.CrossRefPubMedPubMedCentral

Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, et al. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clin Genet. 2017;92(6):664–8. https://doi.org/10.1111/cge.13085.CrossRefPubMed

Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, et al. Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med. 2021;218(3):e20201062. https://doi.org/10.1084/jem.20201062.CrossRefPubMed

Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020;130:5272–86. https://doi.org/10.1172/JCI134966.CrossRefPubMedPubMedCentral

Beziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020;217(6):e20191804. https://doi.org/10.1084/jem.20191804.CrossRefPubMedPubMedCentral

10.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet. 2019;104(6):1182–201. https://doi.org/10.1016/j.ajhg.2019.04.011.CrossRefPubMedPubMedCentral

11.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjo A, et al. Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome. J Exp Med. 2020;217(3):e20191306. https://doi.org/10.1084/jem.20191306.CrossRefPubMedPubMedCentral

12.

Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, et al. Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. Immunity. 2012;36(5):769–81. https://doi.org/10.1016/j.immuni.2012.02.019.CrossRefPubMedPubMedCentral

13.

Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, et al. Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016;113(26):E3706–15. https://doi.org/10.1073/pnas.1607592113.CrossRefPubMedPubMedCentral

14.

Niehues T, Ozgur TT, Bickes M, Waldmann R, Schoning J, Brasen J, et al. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. Eur J Immunol. 2020;50(7):1078–80. https://doi.org/10.1002/eji.201948504.CrossRefPubMed

15.

Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, et al. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin interacting protein 1 deficiency. Blood. 2021;137:493–9 https://doi.org/10.1182/blood.2020006441.

16.

Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, et al. Human PI3Kgamma deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Nat Commun. 2019;10(1):4364. https://doi.org/10.1038/s41467-019-12311-5.CrossRefPubMedPubMedCentral

17.

Thian M, Hoeger B, Kamnev A, Poyer F, Kostel Bal S, Caldera M, et al. Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. Haematologica. 2020;105:e488. https://doi.org/10.3324/haematol.2019.231399.CrossRefPubMed

18.

Kuhny M, Forbes LR, Cakan E, Vega-Loza A, Kostiuk V, Dinesh RK, et al. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020;130(8):4411-4422. https://doi.org/10.1172/JCI131297.CrossRefPubMedPubMedCentral

19.

Yeh TW, Okano T, Naruto T, Yamashita M, Okamura M, Tanita K, et al. APRIL-dependent life-long plasmacyte maintenance and immunoglobulin production in humans. J Allergy Clin Immunol. 2020;146:1109–1120.e4. https://doi.org/10.1016/j.jaci.2020.03.025.CrossRefPubMed

20.

Lee PY, Platt CD, Weeks S, Grace RF, Maher G, Gauthier K, et al. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020;146(5):1194–1200.e1. https://doi.org/10.1016/j.jaci.2020.07.033.CrossRefPubMedPubMedCentral

21.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):90–5. https://doi.org/10.1038/s41586-020-2265-1.CrossRefPubMedPubMedCentral

22.

Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, et al. Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun. 2020;11(1):5341. https://doi.org/10.1038/s41467-020-18925-4.CrossRefPubMedPubMedCentral

23.

Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, et al. Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood. 2020;136(9):1055–66. https://doi.org/10.1182/blood.2020005844.CrossRefPubMed

24.

Goos H, Fogarty CL, Sahu B, Plagnol V, Rajamaki K, Nurmi K, et al. Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. J Allergy Clin Immunol. 2019;144(5):1364–76. https://doi.org/10.1016/j.jaci.2019.06.003.CrossRefPubMed

25.

Yang R, Mele F, Worley L, Langlais D, Rosain J, Benhsaien I, et al. Human T-bet governs innate and innate-like adaptive IFN-gamma immunity against mycobacteria. Cell. 2020;183(7):1826–1847.e31. https://doi.org/10.1016/j.cell.2020.10.046.CrossRefPubMedPubMedCentral

26.

Kerner G, Rosain J, Guerin A, AlKhabaz A, Oleaga-Quintas C, Rapaport F, et al. Inherited human IFNgamma deficiency underlies mycobacterial disease. J Clin Invest. 2020;130(6):3158–71. https://doi.org/10.1172/JCI135460.CrossRefPubMedPubMedCentral

27.

Noda S, Tanaka K, Sawamura S, Sasaki M, Matsumoto T, Mikami K, et al. Role of nitric oxide synthase type 2 in acute infection with murine cytomegalovirus. J Immunol. 2001;166(5):3533–41. https://doi.org/10.4049/jimmunol.166.5.3533.CrossRefPubMed

28.

Drutman SB, Mansouri D, Mahdaviani SA, Neehus AL, Hum D, Bryk R, et al. Fatal Cytomegalovirus infection in an adult with inherited NOS2 deficiency. N Engl J Med. 2020;382(5):437–45. https://doi.org/10.1056/NEJMoa1910640.CrossRefPubMedPubMedCentral

29.

Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, et al. Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. Nat Med. 2019;25(12):1873–84. https://doi.org/10.1038/s41591-019-0672-3.CrossRefPubMedPubMedCentral

30.

Hait AS, Olagnier D, Sancho-Shimizu V, Skipper KA, Helleberg M, Larsen SM, et al. Defects in LC3B2 and ATG4A underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans. Sci Immunol. 2020;5(54):eabc2691. https://doi.org/10.1126/sciimmunol.abc2691.CrossRefPubMedPubMedCentral

31.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, et al. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta. Sci Immunol. 2019;4(41):eabc2691. https://doi.org/10.1126/sciimmunol.aax7965.CrossRef

32.

Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, et al. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020;52(12):1364–72. https://doi.org/10.1038/s41588-020-00737-3.CrossRefPubMed

33.

Verboon JM, Mahmut D, Kim AR, Nakamura M, Abdulhay NJ, Nandakumar SK, et al. Infantile myelofibrosis and myeloproliferation with CDC42 dysfunction. J Clin Immunol. 2020;40:554–66. https://doi.org/10.1007/s10875-020-00778-7.CrossRefPubMedPubMedCentral

34.

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019;216(12):2778–99. https://doi.org/10.1084/jem.20190147.CrossRefPubMedPubMedCentral

35.

Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al. Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1beta inhibition. J Allergy Clin Immunol. 2019;144(4):1122–5 e6. https://doi.org/10.1016/j.jaci.2019.06.017.CrossRefPubMedPubMedCentral

36.

Bucciol G, Pillay B, Casas-Martin J, Delafontaine S, Proesmans M, Lorent N, et al. Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation. J Clin Immunol. 2020;40:567–70. https://doi.org/10.1007/s10875-020-00742-5.CrossRefPubMed

37.

Bekhouche B, Tourville A, Ravichandran Y, Tacine R, Abrami L, Dussiot M, et al. A toxic palmitoylation of Cdc42 enhances NF-kappaB signaling and drives a severe autoinflammatory syndrome. J Allergy Clin Immunol. 2020;146(5):1201–1204.e8. https://doi.org/10.1016/j.jaci.2020.03.020.CrossRefPubMed

38.

He T, Huang Y, Ling J, Yang J. A new patient with NOCARH syndrome due to CDC42 defect. J Clin Immunol. 2020;40(4):571–5. https://doi.org/10.1007/s10875-020-00786-7.CrossRefPubMed

39.

Szczawinska-Poplonyk A, Ploski R, Bernatowska E, Pac M. A novel CDC42 mutation in an 11-year old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report. Front Immunol. 2020;11:318. https://doi.org/10.3389/fimmu.2020.00318.CrossRefPubMedPubMedCentral

40.

Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, et al. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med. 2020;217(5):e20192319. https://doi.org/10.1084/jem.20192319.CrossRefPubMedPubMedCentral

41.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, et al. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019;4(42):eaav7501. https://doi.org/10.1126/sciimmunol.aav7501.CrossRefPubMedPubMedCentral

42.

Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, et al. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020;577(7788):109–14. https://doi.org/10.1038/s41586-019-1830-y.CrossRefPubMed

43.

Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020;577(7788):103–8. https://doi.org/10.1038/s41586-019-1828-5.CrossRefPubMed

44.

Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020;369(6500):202–7. https://doi.org/10.1126/science.aay5663.CrossRefPubMedPubMedCentral

45.

Salzer E, Zoghi S, Kiss MG, Kage F, Rashkova C, Stahnke S, et al. The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity. Sci Immunol. 2020;5(49):eabc3979. https://doi.org/10.1126/sciimmunol.abc3979.CrossRefPubMedPubMedCentral

46.

Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, et al. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation. J Exp Med. 2020;217(12):e20192275. https://doi.org/10.1084/jem.20192275.CrossRefPubMedPubMedCentral

47.

Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628–38. https://doi.org/10.1056/NEJMoa2026834.CrossRefPubMedPubMedCentral

48.

Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, et al. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020;370(6515):eabd4585. https://doi.org/10.1126/science.abd4585.CrossRefPubMedPubMedCentral

49.

Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, et al. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum Genet. 2013;132(11):1311–20. https://doi.org/10.1007/s00439-013-1337-9.CrossRefPubMed

50.

Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, et al. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med. 2019;216(9):1986–98. https://doi.org/10.1084/jem.20190344.CrossRefPubMedPubMedCentral

51.

Gombart AF, Koeffler HP. Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol. 2002;9(1):36–42. https://doi.org/10.1097/00062752-200201000-00007.CrossRefPubMed

52.

Su HC, Orange JS. The growing spectrum of human diseases caused by inherited CDC42 mutations. J Clin Immunol. 2020;40(4):551–3. https://doi.org/10.1007/s10875-020-00785-8.CrossRefPubMedPubMedCentral

53.

Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, et al. STAT2 deficiency and susceptibility to viral illness in humans. Proc Natl Acad Sci U S A. 2013;110(8):3053–8. https://doi.org/10.1073/pnas.1220098110.CrossRefPubMedPubMedCentral

54.

Moens L, Van Eyck L, Jochmans D, Mitera T, Frans G, Bossuyt X, et al. A novel kindred with inherited STAT2 deficiency and severe viral illness. J Allergy Clin Immunol. 2017;139(6):1995–7 e9. https://doi.org/10.1016/j.jaci.2016.10.033.CrossRefPubMed

55.

Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, et al. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science. 2018;361(6404):810–3. https://doi.org/10.1126/science.aar2641.CrossRefPubMedPubMedCentral

56.

Li Y, Fuhrer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, et al. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 2019;116(3):970–5. https://doi.org/10.1073/pnas.1813582116.CrossRefPubMed

57.

Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014;211(11):2137–49. https://doi.org/10.1084/jem.20140520.CrossRefPubMedPubMedCentral

58.

Bustamante J. Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet. 2020;139(6–7):993–1000. https://doi.org/10.1007/s00439-020-02120-y.CrossRefPubMedPubMedCentral

59.

Moens L, Meyts I. Recent human genetic errors of innate immunity leading to increased susceptibility to infection. Curr Opin Immunol. 2020;62:79–90. https://doi.org/10.1016/j.coi.2019.12.002.CrossRefPubMed

60.

Zhang SY. Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity. Hum Genet. 2020;139(6–7):911–8. https://doi.org/10.1007/s00439-020-02127-5.CrossRefPubMedPubMedCentral

61.

Casanova JL, Holland SM, Notarangelo LD. Inborn errors of human JAKs and STATs. Immunity. 2012;36(4):515–28. https://doi.org/10.1016/j.immuni.2012.03.016.CrossRefPubMedPubMedCentral

62.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, et al. Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica. 2019;104(3):609–21. https://doi.org/10.3324/haematol.2018.194233.CrossRefPubMedPubMedCentral

63.

Nahum A, Sharfe N, Broides A, Dadi H, Naghdi Z, Mandola AB, et al. Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency. J Allergy Clin Immunol. 2020;145(3):1011–5 e6. https://doi.org/10.1016/j.jaci.2019.11.015.CrossRefPubMed

64.

Puel A, Picard C, Lorrot M, Pons C, Chrabieh M, Lorenzo L, et al. Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6. J Immunol. 2008;180(1):647–54. https://doi.org/10.4049/jimmunol.180.1.647.CrossRefPubMed

65.

Martinez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, et al. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018;3(30):eaau6759. https://doi.org/10.1126/sciimmunol.aau6759.CrossRefPubMed

66.

Kotlarz D, Zietara N, Milner JD, Klein C. Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr. 2014;26(6):704–12. https://doi.org/10.1097/MOP.0000000000000160.CrossRefPubMed

67.

Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020;370(6515):eabd4570. https://doi.org/10.1126/science.abd4570.CrossRefPubMedPubMedCentral

68.

Zhang Q. Human genetics of life-threatening influenza pneumonitis. Hum Genet. 2020;139(6–7):941–8. https://doi.org/10.1007/s00439-019-02108-3.CrossRefPubMed

69.

Ku CL, Chi CY, von Bernuth H, Doffinger R. Autoantibodies against cytokines: phenocopies of primary immunodeficiencies? Hum Genet. 2020;139(6–7):783–94. https://doi.org/10.1007/s00439-020-02180-0.CrossRefPubMedPubMedCentral

70.

Levy R, Bastard P, Lanternier F, Lecuit M, Zhang SY, Casanova JL. IFN-alpha2a therapy in two patients with inborn errors of TLR3 and IRF3 infected with SARS-CoV-2. J Clin Immunol. 2021;41:26–7. https://doi.org/10.1007/s10875-020-00933-0.

Title: The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
Authors: Stuart G. Tangye
Waleed Al-Herz
Aziz Bousfiha
Charlotte Cunningham-Rundles
Jose Luis Franco
Steven M Holland
Christoph Klein
Tomohiro Morio
Eric Oksenhendler
Capucine Picard
Anne Puel
Jennifer Puck
Mikko R. J. Seppänen
Raz Somech
Helen C Su
Kathleen E. Sullivan
Troy R. Torgerson
Isabelle Meyts
Publication date: 01-04-2021
Publisher: Springer US
Keyword: Primary Immunodeficiency
Published in: Journal of Clinical Immunology / Issue 3/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-00980-1

ACC 2024 Congress Coverage

Heart Failure Video

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2021

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Inflammatory Pseudotumor of Liver and Budd-Chiari Syndrome: a Tale During 10 Years of Follow-up in a Child with Severe Congenital Neutropenia

Serum Sp17 Autoantibody Serves as a Potential Specific Biomarker in Patients with SAPHO Syndrome

Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency

Correction to: TREC Screening for WHIM Syndrome

SARS-CoV-2-Induced ARDS Associates with MDSC Expansion, Lymphocyte Dysfunction, and Arginine Shortage

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page