Etiology
Chen YH,
van Zon S,
Adams A,
Schmidt-Arras D,
Laurence ADJ,
Uhlig HH
J Clin Immunol
2023 Dec 22;44(1):30.
doi: 10.1007/s10875-023-01603-7.
PMID: 38133879Free PMC Article
Ollech A,
Mashiah J,
Lev A,
Simon AJ,
Somech R,
Adam E,
Barzilai A,
Hagin D,
Greenberger S
J Dermatol
2021 Sep;48(9):1386-1393.
Epub 2021 May 27
doi: 10.1111/1346-8138.15955.
PMID: 34043252
Eken A,
Cansever M,
Okus FZ,
Erdem S,
Nain E,
Azizoglu ZB,
Haliloglu Y,
Karakukcu M,
Ozcan A,
Devecioglu O,
Aksu G,
Arikan Ayyildiz Z,
Topal E,
Karakoc Aydiner E,
Kiykim A,
Metin A,
Cipe F,
Kaya A,
Artac H,
Reisli I,
Guner SN,
Uygun V,
Karasu G,
Dönmez Altuntas H,
Canatan H,
Oukka M,
Ozen A,
Chatila TA,
Keles S,
Baris S,
Unal E,
Patiroglu T
Allergy
2020 Apr;75(4):921-932.
Epub 2019 Oct 31
doi: 10.1111/all.14081.
PMID: 31596517Free PMC Article
Gatz SA,
Benninghoff U,
Schütz C,
Schulz A,
Hönig M,
Pannicke U,
Holzmann KH,
Schwarz K,
Friedrich W
Bone Marrow Transplant
2011 Apr;46(4):552-6.
Epub 2010 Jul 12
doi: 10.1038/bmt.2010.169.
PMID: 20622910
Su HC
Curr Opin Allergy Clin Immunol
2010 Dec;10(6):515-20.
doi: 10.1097/ACI.0b013e32833fd718.
PMID: 20864884Free PMC Article
Diagnosis
Seth N,
Tuano KS,
Chinen J
J Allergy Clin Immunol
2021 Dec;148(6):1442-1450.
Epub 2021 Oct 21
doi: 10.1016/j.jaci.2021.10.010.
PMID: 34688776
Cagdas D,
Halacli SO,
Tan C,
Esenboga S,
Karaatmaca B,
Cetinkaya PG,
Balcı-Hayta B,
Ayhan A,
Uner A,
Orhan D,
Boztug K,
Ozen S,
Topaloglu R,
Sanal O,
Tezcan I
J Allergy Clin Immunol Pract
2021 Oct;9(10):3752-3766.e4.
Epub 2021 Jun 17
doi: 10.1016/j.jaip.2021.05.032.
PMID: 34146746
Bergerson JRE,
Freeman AF
Immunol Allergy Clin North Am
2019 Feb;39(1):49-61.
doi: 10.1016/j.iac.2018.08.007.
PMID: 30466772
Szczawinska-Poplonyk A,
Kycler Z,
Pietrucha B,
Heropolitanska-Pliszka E,
Breborowicz A,
Gerreth K
Orphanet J Rare Dis
2011 Nov 15;6:76.
doi: 10.1186/1750-1172-6-76.
PMID: 22085750Free PMC Article
Su HC
Curr Opin Allergy Clin Immunol
2010 Dec;10(6):515-20.
doi: 10.1097/ACI.0b013e32833fd718.
PMID: 20864884Free PMC Article
Therapy
Materna-Kiryluk A,
Pollak A,
Gawalski K,
Szczawinska-Poplonyk A,
Rydzynska Z,
Sosnowska A,
Cukrowska B,
Gasperowicz P,
Konopka E,
Pietrucha B,
Grzywa TM,
Banaszak-Ziemska M,
Niedziela M,
Skalska-Sadowska J,
Stawiński P,
Śladowski D,
Nowis D,
Ploski R
Hum Mol Genet
2021 Apr 26;30(3-4):226-233.
doi: 10.1093/hmg/ddab035.
PMID: 33517393
Alsum Z,
Hawwari A,
Alsmadi O,
Al-Hissi S,
Borrero E,
Abu-Staiteh A,
Khalak HG,
Wakil S,
Eldali AM,
Arnaout R,
Al-Ghonaium A,
Al-Muhsen S,
Al-Dhekri H,
Al-Saud B,
Al-Mousa H
J Clin Immunol
2013 Jan;33(1):55-67.
Epub 2012 Sep 12
doi: 10.1007/s10875-012-9769-x.
PMID: 22968740
Ozgur TT,
Asal GT,
Gurgey A,
Tezcan I,
Ersoy F,
Sanal O
J Pediatr Hematol Oncol
2007 May;29(5):327-9.
doi: 10.1097/MPH.0b013e318059c236.
PMID: 17483712
Prognosis
Chen YH,
van Zon S,
Adams A,
Schmidt-Arras D,
Laurence ADJ,
Uhlig HH
J Clin Immunol
2023 Dec 22;44(1):30.
doi: 10.1007/s10875-023-01603-7.
PMID: 38133879Free PMC Article
Ollech A,
Mashiah J,
Lev A,
Simon AJ,
Somech R,
Adam E,
Barzilai A,
Hagin D,
Greenberger S
J Dermatol
2021 Sep;48(9):1386-1393.
Epub 2021 May 27
doi: 10.1111/1346-8138.15955.
PMID: 34043252
Engelhardt KR,
Gertz ME,
Keles S,
Schäffer AA,
Sigmund EC,
Glocker C,
Saghafi S,
Pourpak Z,
Ceja R,
Sassi A,
Graham LE,
Massaad MJ,
Mellouli F,
Ben-Mustapha I,
Khemiri M,
Kilic SS,
Etzioni A,
Freeman AF,
Thiel J,
Schulze I,
Al-Herz W,
Metin A,
Sanal Ö,
Tezcan I,
Yeganeh M,
Niehues T,
Dueckers G,
Weinspach S,
Patiroglu T,
Unal E,
Dasouki M,
Yilmaz M,
Genel F,
Aytekin C,
Kutukculer N,
Somer A,
Kilic M,
Reisli I,
Camcioglu Y,
Gennery AR,
Cant AJ,
Jones A,
Gaspar BH,
Arkwright PD,
Pietrogrande MC,
Baz Z,
Al-Tamemi S,
Lougaris V,
Lefranc G,
Megarbane A,
Boutros J,
Galal N,
Bejaoui M,
Barbouche MR,
Geha RS,
Chatila TA,
Grimbacher B
J Allergy Clin Immunol
2015 Aug;136(2):402-12.
Epub 2015 Feb 25
doi: 10.1016/j.jaci.2014.12.1945.
PMID: 25724123Free PMC Article
Aydin SE,
Kilic SS,
Aytekin C,
Kumar A,
Porras O,
Kainulainen L,
Kostyuchenko L,
Genel F,
Kütükcüler N,
Karaca N,
Gonzalez-Granado L,
Abbott J,
Al-Zahrani D,
Rezaei N,
Baz Z,
Thiel J,
Ehl S,
Marodi L,
Orange JS,
Sawalle-Belohradsky J,
Keles S,
Holland SM,
Sanal Ö,
Ayvaz DC,
Tezcan I,
Al-Mousa H,
Alsum Z,
Hawwari A,
Metin A,
Matthes-Martin S,
Hönig M,
Schulz A,
Picard C,
Barlogis V,
Gennery A,
Ifversen M,
van Montfrans J,
Kuijpers T,
Bredius R,
Dückers G,
Al-Herz W,
Pai SY,
Geha R,
Notheis G,
Schwarze CP,
Tavil B,
Azik F,
Bienemann K,
Grimbacher B,
Heinz V,
Gaspar HB,
Aydin R,
Hagl B,
Gathmann B,
Belohradsky BH,
Ochs HD,
Chatila T,
Renner ED,
Su H,
Freeman AF,
Engelhardt K,
Albert MH;
inborn errors working party of EBMT
J Clin Immunol
2015 Feb;35(2):189-98.
Epub 2015 Jan 28
doi: 10.1007/s10875-014-0126-0.
PMID: 25627830
Gatz SA,
Benninghoff U,
Schütz C,
Schulz A,
Hönig M,
Pannicke U,
Holzmann KH,
Schwarz K,
Friedrich W
Bone Marrow Transplant
2011 Apr;46(4):552-6.
Epub 2010 Jul 12
doi: 10.1038/bmt.2010.169.
PMID: 20622910
Clinical prediction guides
Chen YH,
van Zon S,
Adams A,
Schmidt-Arras D,
Laurence ADJ,
Uhlig HH
J Clin Immunol
2023 Dec 22;44(1):30.
doi: 10.1007/s10875-023-01603-7.
PMID: 38133879Free PMC Article
Aydin SE,
Kilic SS,
Aytekin C,
Kumar A,
Porras O,
Kainulainen L,
Kostyuchenko L,
Genel F,
Kütükcüler N,
Karaca N,
Gonzalez-Granado L,
Abbott J,
Al-Zahrani D,
Rezaei N,
Baz Z,
Thiel J,
Ehl S,
Marodi L,
Orange JS,
Sawalle-Belohradsky J,
Keles S,
Holland SM,
Sanal Ö,
Ayvaz DC,
Tezcan I,
Al-Mousa H,
Alsum Z,
Hawwari A,
Metin A,
Matthes-Martin S,
Hönig M,
Schulz A,
Picard C,
Barlogis V,
Gennery A,
Ifversen M,
van Montfrans J,
Kuijpers T,
Bredius R,
Dückers G,
Al-Herz W,
Pai SY,
Geha R,
Notheis G,
Schwarze CP,
Tavil B,
Azik F,
Bienemann K,
Grimbacher B,
Heinz V,
Gaspar HB,
Aydin R,
Hagl B,
Gathmann B,
Belohradsky BH,
Ochs HD,
Chatila T,
Renner ED,
Su H,
Freeman AF,
Engelhardt K,
Albert MH;
inborn errors working party of EBMT
J Clin Immunol
2015 Feb;35(2):189-98.
Epub 2015 Jan 28
doi: 10.1007/s10875-014-0126-0.
PMID: 25627830
Su HC,
Jing H,
Zhang Q
Ann N Y Acad Sci
2011 Dec;1246:26-33.
doi: 10.1111/j.1749-6632.2011.06295.x.
PMID: 22236427
Szczawinska-Poplonyk A,
Kycler Z,
Pietrucha B,
Heropolitanska-Pliszka E,
Breborowicz A,
Gerreth K
Orphanet J Rare Dis
2011 Nov 15;6:76.
doi: 10.1186/1750-1172-6-76.
PMID: 22085750Free PMC Article
Su HC
Curr Opin Allergy Clin Immunol
2010 Dec;10(6):515-20.
doi: 10.1097/ACI.0b013e32833fd718.
PMID: 20864884Free PMC Article