Etiology
Thakar MS,
Logan BR,
Puck JM,
Dunn EA,
Buckley RH,
Cowan MJ,
O'Reilly RJ,
Kapoor N,
Satter LF,
Pai SY,
Heimall J,
Chandra S,
Ebens CL,
Chellapandian D,
Williams O,
Burroughs LM,
Saldana BD,
Rayes A,
Madden LM,
Chandrakasan S,
Bednarski JJ 2nd,
DeSantes KB,
Cuvelier GDE,
Teira P,
Gillio AP,
Eissa H,
Knutsen AP,
Goldman FD,
Aquino VM,
Shereck EB,
Moore TB,
Caywood EH,
Lugt MTV,
Rozmus J,
Broglie L,
Yu LC,
Shah AJ,
Andolina JR,
Liu X,
Parrott RE,
Dara J,
Prockop S,
Martinez CA,
Kapadia M,
Jyonouchi SC,
Sullivan KE,
Bleesing JJ,
Chaudhury S,
Petrovic A,
Keller MD,
Quigg TC,
Parikh S,
Shenoy S,
Seroogy C,
Rubin T,
Decaluwe H,
Routes JM,
Torgerson TR,
Leiding JW,
Pulsipher MA,
Kohn DB,
Griffith LM,
Haddad E,
Dvorak CC,
Notarangelo LD
Lancet
2023 Jul 8;402(10396):129-140.
Epub 2023 Jun 20
doi: 10.1016/S0140-6736(23)00731-6.
PMID: 37352885Free PMC Article
Lisco A,
Ortega-Villa AM,
Mystakelis H,
Anderson MV,
Mateja A,
Laidlaw E,
Manion M,
Roby G,
Higgins J,
Kuriakose S,
Walkiewicz MA,
Similuk M,
Leiding JW,
Freeman AF,
Sheikh V,
Sereti I
N Engl J Med
2023 May 4;388(18):1680-1691.
doi: 10.1056/NEJMoa2202348.
PMID: 37133586Free PMC Article
Navarro J
AIDS Rev
2022;25(2):87-96.
doi: 10.24875/AIDSRev.M22000052.
PMID: 35901073
Egg D,
Rump IC,
Mitsuiki N,
Rojas-Restrepo J,
Maccari ME,
Schwab C,
Gabrysch A,
Warnatz K,
Goldacker S,
Patiño V,
Wolff D,
Okada S,
Hayakawa S,
Shikama Y,
Kanda K,
Imai K,
Sotomatsu M,
Kuwashima M,
Kamiya T,
Morio T,
Matsumoto K,
Mori T,
Yoshimoto Y,
Dybedal I,
Kanariou M,
Kucuk ZY,
Chapdelaine H,
Petruzelkova L,
Lorenz HM,
Sullivan KE,
Heimall J,
Moutschen M,
Litzman J,
Recher M,
Albert MH,
Hauck F,
Seneviratne S,
Pachlopnik Schmid J,
Kolios A,
Unglik G,
Klemann C,
Snapper S,
Giulino-Roth L,
Svaton M,
Platt CD,
Hambleton S,
Neth O,
Gosse G,
Reinsch S,
Holzinger D,
Kim YJ,
Bakhtiar S,
Atschekzei F,
Schmidt R,
Sogkas G,
Chandrakasan S,
Rae W,
Derfalvi B,
Marquart HV,
Ozen A,
Kiykim A,
Karakoc-Aydiner E,
Králíčková P,
de Bree G,
Kiritsi D,
Seidel MG,
Kobbe R,
Dantzer J,
Alsina L,
Armangue T,
Lougaris V,
Agyeman P,
Nyström S,
Buchbinder D,
Arkwright PD,
Grimbacher B
J Allergy Clin Immunol
2022 Feb;149(2):736-746.
Epub 2021 Jun 7
doi: 10.1016/j.jaci.2021.04.039.
PMID: 34111452
Platt CD,
Zaman F,
Bainter W,
Stafstrom K,
Almutairi A,
Reigle M,
Weeks S,
Geha RS,
Chou J;
International Consortium for Immunodeficiencies
J Allergy Clin Immunol
2021 Feb;147(2):723-726.
Epub 2020 Sep 2
doi: 10.1016/j.jaci.2020.08.022.
PMID: 32888943Free PMC Article
Diagnosis
Thakar MS,
Logan BR,
Puck JM,
Dunn EA,
Buckley RH,
Cowan MJ,
O'Reilly RJ,
Kapoor N,
Satter LF,
Pai SY,
Heimall J,
Chandra S,
Ebens CL,
Chellapandian D,
Williams O,
Burroughs LM,
Saldana BD,
Rayes A,
Madden LM,
Chandrakasan S,
Bednarski JJ 2nd,
DeSantes KB,
Cuvelier GDE,
Teira P,
Gillio AP,
Eissa H,
Knutsen AP,
Goldman FD,
Aquino VM,
Shereck EB,
Moore TB,
Caywood EH,
Lugt MTV,
Rozmus J,
Broglie L,
Yu LC,
Shah AJ,
Andolina JR,
Liu X,
Parrott RE,
Dara J,
Prockop S,
Martinez CA,
Kapadia M,
Jyonouchi SC,
Sullivan KE,
Bleesing JJ,
Chaudhury S,
Petrovic A,
Keller MD,
Quigg TC,
Parikh S,
Shenoy S,
Seroogy C,
Rubin T,
Decaluwe H,
Routes JM,
Torgerson TR,
Leiding JW,
Pulsipher MA,
Kohn DB,
Griffith LM,
Haddad E,
Dvorak CC,
Notarangelo LD
Lancet
2023 Jul 8;402(10396):129-140.
Epub 2023 Jun 20
doi: 10.1016/S0140-6736(23)00731-6.
PMID: 37352885Free PMC Article
Lisco A,
Ortega-Villa AM,
Mystakelis H,
Anderson MV,
Mateja A,
Laidlaw E,
Manion M,
Roby G,
Higgins J,
Kuriakose S,
Walkiewicz MA,
Similuk M,
Leiding JW,
Freeman AF,
Sheikh V,
Sereti I
N Engl J Med
2023 May 4;388(18):1680-1691.
doi: 10.1056/NEJMoa2202348.
PMID: 37133586Free PMC Article
Peng XP,
Caballero-Oteyza A,
Grimbacher B
Annu Rev Pathol
2023 Jan 24;18:283-310.
Epub 2022 Oct 20
doi: 10.1146/annurev-pathmechdis-031521-024229.
PMID: 36266261
Egg D,
Rump IC,
Mitsuiki N,
Rojas-Restrepo J,
Maccari ME,
Schwab C,
Gabrysch A,
Warnatz K,
Goldacker S,
Patiño V,
Wolff D,
Okada S,
Hayakawa S,
Shikama Y,
Kanda K,
Imai K,
Sotomatsu M,
Kuwashima M,
Kamiya T,
Morio T,
Matsumoto K,
Mori T,
Yoshimoto Y,
Dybedal I,
Kanariou M,
Kucuk ZY,
Chapdelaine H,
Petruzelkova L,
Lorenz HM,
Sullivan KE,
Heimall J,
Moutschen M,
Litzman J,
Recher M,
Albert MH,
Hauck F,
Seneviratne S,
Pachlopnik Schmid J,
Kolios A,
Unglik G,
Klemann C,
Snapper S,
Giulino-Roth L,
Svaton M,
Platt CD,
Hambleton S,
Neth O,
Gosse G,
Reinsch S,
Holzinger D,
Kim YJ,
Bakhtiar S,
Atschekzei F,
Schmidt R,
Sogkas G,
Chandrakasan S,
Rae W,
Derfalvi B,
Marquart HV,
Ozen A,
Kiykim A,
Karakoc-Aydiner E,
Králíčková P,
de Bree G,
Kiritsi D,
Seidel MG,
Kobbe R,
Dantzer J,
Alsina L,
Armangue T,
Lougaris V,
Agyeman P,
Nyström S,
Buchbinder D,
Arkwright PD,
Grimbacher B
J Allergy Clin Immunol
2022 Feb;149(2):736-746.
Epub 2021 Jun 7
doi: 10.1016/j.jaci.2021.04.039.
PMID: 34111452
Platt CD,
Zaman F,
Bainter W,
Stafstrom K,
Almutairi A,
Reigle M,
Weeks S,
Geha RS,
Chou J;
International Consortium for Immunodeficiencies
J Allergy Clin Immunol
2021 Feb;147(2):723-726.
Epub 2020 Sep 2
doi: 10.1016/j.jaci.2020.08.022.
PMID: 32888943Free PMC Article
Therapy
Cohen Tervaert JW,
Mohazab N,
Redmond D,
van Eeden C,
Osman M
Expert Rev Clin Immunol
2022 Jan;18(1):15-29.
Epub 2022 Jan 5
doi: 10.1080/1744666X.2022.2010546.
PMID: 34882509
Jafarian A,
Shokri G,
Shokrollahi Barough M,
Moin M,
Pourpak Z,
Soleimani M
Iran J Allergy Asthma Immunol
2019 Apr 1;18(2):131-142.
PMID: 31066249
Lazarus E,
Nicol S,
Frigati L,
Penazzato M,
Cotton MF,
Centeno-Tablante E,
Violari A,
Nicol L
Pediatr Infect Dis J
2017 May;36(5):492-499.
doi: 10.1097/INF.0000000000001481.
PMID: 28403052
Stohl W,
Schwarting A,
Okada M,
Scheinberg M,
Doria A,
Hammer AE,
Kleoudis C,
Groark J,
Bass D,
Fox NL,
Roth D,
Gordon D
Arthritis Rheumatol
2017 May;69(5):1016-1027.
Epub 2017 Apr 7
doi: 10.1002/art.40049.
PMID: 28118533Free PMC Article
Navarro RP,
Ballow M,
Fenrick B,
Pezalla EJ
Am J Manag Care
2012 Jun;18(4 Suppl):S67-78.
PMID: 22774920
Prognosis
Mallart E,
Françoise U,
Driessen M,
Blanche S,
Lortholary O,
Lefort A,
Caseris M,
Fischer A,
Mahlaoui N,
Charlier C;
PREPI study group
J Allergy Clin Immunol
2023 Sep;152(3):760-770.
Epub 2023 May 18
doi: 10.1016/j.jaci.2023.05.006.
PMID: 37210041
Lisco A,
Ortega-Villa AM,
Mystakelis H,
Anderson MV,
Mateja A,
Laidlaw E,
Manion M,
Roby G,
Higgins J,
Kuriakose S,
Walkiewicz MA,
Similuk M,
Leiding JW,
Freeman AF,
Sheikh V,
Sereti I
N Engl J Med
2023 May 4;388(18):1680-1691.
doi: 10.1056/NEJMoa2202348.
PMID: 37133586Free PMC Article
Levy A,
Guidez S,
Debiais C,
Princet I,
Bouyer S,
Dindinaud E,
Delwail V,
Systchenko T,
Moya N,
Gruchet C,
Sabirou F,
Bobin A,
Gardeney H,
Nsiala L,
Cailly L,
Olivier G,
Motard C,
Fleck E,
Corby A,
Roul C,
Denis G,
Dieval C,
Leleu X,
Tomowiak C
Leuk Lymphoma
2021 Nov;62(11):2665-2670.
Epub 2021 Jun 4
doi: 10.1080/10428194.2021.1907379.
PMID: 34085595
Batura V,
Muise AM
Curr Opin Allergy Clin Immunol
2018 Dec;18(6):470-480.
doi: 10.1097/ACI.0000000000000486.
PMID: 30299396
Lill MC,
Golde DW
Blood Rev
1990 Dec;4(4):238-44.
doi: 10.1016/0268-960x(90)90003-b.
PMID: 1706207
Clinical prediction guides
Lisco A,
Ortega-Villa AM,
Mystakelis H,
Anderson MV,
Mateja A,
Laidlaw E,
Manion M,
Roby G,
Higgins J,
Kuriakose S,
Walkiewicz MA,
Similuk M,
Leiding JW,
Freeman AF,
Sheikh V,
Sereti I
N Engl J Med
2023 May 4;388(18):1680-1691.
doi: 10.1056/NEJMoa2202348.
PMID: 37133586Free PMC Article
Borte M,
Hanitsch LG,
Mahlaoui N,
Fasshauer M,
Huscher D,
Speletas M,
Dimou M,
Kamieniak M,
Hermann C,
Pittrow D,
Milito C
J Clin Immunol
2023 Aug;43(6):1259-1271.
Epub 2023 Apr 10
doi: 10.1007/s10875-023-01470-2.
PMID: 37036560Free PMC Article
Cagdas D,
Gur Cetinkaya P,
Karaatmaca B,
Esenboga S,
Tan C,
Yılmaz T,
Gümüş E,
Barış S,
Kuşkonmaz B,
Ozgur TT,
Bali P,
Santisteban I,
Orhan D,
Yüce A,
Cetinkaya D,
Boztug K,
Hershfield M,
Sanal O,
Tezcan İ
J Clin Immunol
2018 May;38(4):484-493.
Epub 2018 May 9
doi: 10.1007/s10875-018-0496-9.
PMID: 29744787
Stohl W,
Schwarting A,
Okada M,
Scheinberg M,
Doria A,
Hammer AE,
Kleoudis C,
Groark J,
Bass D,
Fox NL,
Roth D,
Gordon D
Arthritis Rheumatol
2017 May;69(5):1016-1027.
Epub 2017 Apr 7
doi: 10.1002/art.40049.
PMID: 28118533Free PMC Article
Lill MC,
Golde DW
Blood Rev
1990 Dec;4(4):238-44.
doi: 10.1016/0268-960x(90)90003-b.
PMID: 1706207