Tangye SG, Al-Herz W, Bousfiha A et al (2020) Human inborn errors of immunity: 2019 update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40:24–64

Article  Google Scholar 

Bacharier LB, Broide DH, Burks AW, Hershey GK, Holgate ST, O'Hehir E, Peebles RS, editors (2020) Middleton's Allergy: Principles and Practice. Elsevier 2:1183–91

Darwish IA (2006) Immunoassay methods and their applications in pharmaceutical analysis: basic methodology and recent advances. Int J Biomed Sci 2:217–235

CAS  PubMed  PubMed Central  Google Scholar 

McKinnon KM (2018) Flow cytometry: an overview. Curr Protoc Immunol 120(1):5–1

Heimall JR, Hagin D, Hajjar J et al (2018) Use of genetic testing for primary immunodeficiency patients. J Clin Immunol 38:320–329

CAS  Article  Google Scholar 

Fried AJ, Bonilla FA (2009) Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev 22:396–414

CAS  Article  Google Scholar 

Wood P (2009) Primary antibody deficiency syndromes. Ann Clin Biochem 46:99–108

CAS  Article  Google Scholar 

Vetrie D, Vorechovsky I, Sideras P et al (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361:226–233

CAS  Article  Google Scholar 

Durandy A, Taubenheim N, Peron S, Fischer A (2007) Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol 94:275–306

CAS  Article  Google Scholar 

Warnatz K, Schlesier M (2008) Flowcytometric phenotyping of common variable immunodeficiency. Cytometry B Clin Cytom 74:261–271

Article  Google Scholar 

Smith LL, Buckley R, Lugar P (2014) Diagnostic immunization with bacteriophage ΦX 174 in patients with common variable immunodeficiency/hypogammaglobulinemia. Front Immunol 5:410. https://doi.org/10.3389/fimmu.2014.00410

CAS  Article  PubMed  PubMed Central  Google Scholar 

Abolhassani H, Hammarström L, Cunningham-Rundles C (2020) Current genetic landscape in common variable immune deficiency. Blood 135(9):656–667. https://doi.org/10.1182/blood.2019000929

Article  PubMed  PubMed Central  Google Scholar 

Loomba R, Shah PH, Anderson RH, Arora Y (2016) Radiologic considerations in heterotaxy: the need for detailed anatomic evaluation. Cureus 8(1):e470. https://doi.org/10.7759/cureus.470

Article  PubMed  PubMed Central  Google Scholar 

de Porto AP, Lammers AJ, Bennink RJ, ten Berge IJ, Speelman P, Hoekstra JB (2010) Assessment of splenic function. Eur J Clin Microbiol Infect Dis 29(12):1465–1473

Article  Google Scholar 

Angay O, Friedrich M, Pinnecker J, Hintzsche H, Stopper H, Hempel K, Heinze KG (2018) Image-based modeling and scoring of Howell-Jolly Bodies in human erythrocytes. Cytometry. Part A: J Int Soc Anal Cytol 93(3)305–313. https://doi.org/10.1002/cyto.a.23123

Davies JM, Lewis MP, Wimperis J, Rafi I, Ladhani S, Bolton-Maggs PH, British Committee for Standards in Haematology (2011) Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol 155(3):308–317. https://doi.org/10.1111/j.1365-2141.2011.08843.x

CAS  Article  PubMed  Google Scholar 

van der Burg M, Mahlaoui N, Gaspar HB, Pai SY (2019) Universal newborn screening for severe combined immunodeficiency (SCID). Front Pediatr 7:373

Article  Google Scholar 

Corneo B, Moshous D, Gungor T et al (2001) Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood 97:2772–2776

CAS  Article  Google Scholar 

Bonilla FA, Khan DA, Ballas ZK et al (2015) Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 136(1186–205):e1-78

Google Scholar 

Brodszki N, Frazer-Abel A, Grumach AS et al (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement guideline: Deficiencies, diagnosis, and management. J Clin Immunol 40(4):576–591

Newburger PE, Dale DC (2013) Evaluation and management of patients with isolated neutropenia. Semin Hematol 50:198–206

Article  Google Scholar 

Jirapongsananuruk O, Malech HL, Kuhns DB et al (2003) Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 111:374–379

CAS  Article  Google Scholar 

Ley K, Hoffman HM, Kubes P et al (2018) Neutrophils: new insights and open questions. Sci Immunol 3

Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL (2014) Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol 26:454–470

CAS  Article  Google Scholar 

Cook DN, Pisetsky DS, Schwartz DA (2004) Toll-like receptors in the pathogenesis of human disease. Nat Immunol 5:975–979

CAS  Article  Google Scholar 

McDonald D Toll-like receptors: roles in disease and therapy. UpToDate

Deering RP, Orange JS (2006) Development of a clinical assay to evaluate toll-like receptor function. Clin Vaccine Immunol 13:68–76

CAS  Article  Google Scholar 

Akira S, Takeda K (2004) Toll-like receptor signalling. Nat Rev Immunol 4:499–511

CAS  Article  Google Scholar 

Maglione PJ, Simchoni N, Cunningham-Rundles C (2015) Toll-like receptor signaling in primary immune deficiencies. Ann N Y Acad Sci 1356:1–21

CAS  Article  Google Scholar 

Vargas-Hernandez A, Forbes LR (2019) The impact of immunodeficiency on nk cell maturation and function. Curr Allergy Asthma Rep 19:2

Article  Google Scholar 

Orange JS (2013) Natural killer cell deficiency. J Allergy Clin Immunol 132:515–525

CAS  Article  Google Scholar 

McDonald-McGinn DM, Sullivan KE, Marino B et al (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers 1:15071

Bousfiha A, Jeddane L, Picard C et al (2020) Human inborn errors of immunity: 2019 update of the IUIS Phenotypical Classification. J Clin Immunol 40:66–81

Article  Google Scholar 

Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Chinn IK (2021) Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol S0091–6749(21)01135–0. Advance online publication. https://doi.org/10.1016/j.jaci.2021.07.015

Seidel MG (2014) Autoimmune and other cytopenias in primary immunodeficiencies: Pathomechanisms, novel differential diagnoses, and treatment. Blood 124(15):2337–2344. https://doi.org/10.1182/blood-2014-06-583260

CAS  Article  PubMed  PubMed Central  Google Scholar 

Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Leiding JW (2018) Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. Journal of Allergy and Clinical Immunology 142(5):1665–1669. https://doi.org/10.1016/j.jaci.2018.07.020

CAS  Article  Google Scholar 

Bride KL, Vincent T, Smith-Whitley K, Lambert MP, Bleesing JJ, Seif AE, Manno CS, Casper J, Grupp SA, Teachey DT (2016) Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. Blood 127(1):17–28. https://doi.org/10.1182/blood-2015-07-657981

CAS  Article  PubMed  PubMed Central  Google Scholar 

Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari et al (2021) Therapeutic options for CTLA-4 insufficiency. Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2021.04.039

Article  Google Scholar 

Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, Allen CE (2018) Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood 132(1):89–100. https://doi.org/10.1182/blood-2017-11-814244

CAS  Article  PubMed  PubMed Central  Google Scholar 

Wada T, Kanegane H, Ohta K, Katoh F, Imamura T, Nakazawa Y, Miyashita R, Hara J, Hamamoto K, Yang X, Filipovich AH, Marsh RA, Yachie A (2014) Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine 65(1):74–78. https://doi.org/10.1016/j.cyto.2013.09.007

CAS  Article  PubMed  Google Scholar 

Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48(2):124–131. https://doi.org/10.1002/pbc.21039

Article  Google Scholar 

Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL (2012) Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 12(6):616–622. https://doi.org/10.1097/ACI.0b013e328358cc0b

CAS  Article  PubMed  PubMed Central  Google Scholar 

Nigrovic PA, Lee PY, Hoffman HM (2020) Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol 146(5):925–937. https://doi.org/10.1016/j.jaci.2020.08.017

CAS  Article  PubMed  PubMed Central  Google Scholar 

Wilson SP, Cassel SL (2010) Inflammasome-mediated autoinflammatory disorders. Postgrad Med 122(5):125–133. https://doi.org/10.3810/pgm.2010.09.2209

Article  PubMed  PubMed Central  Google Scholar 

Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M (2016) Type I interferonopathies in pediatric rheumatology. Pediatr Rheumatol Online J 14(1):35. https://doi.org/10.1186/s12969-016-0094-4

Article  PubMed  PubMed Central  Google Scholar