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Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China.
Qiu L, Wang Y, Tang W, Yang Q, Zeng T, Chen J, Chen X, Zhang L, Zhou L, Zhang Z, An Y, Tang X, Zhao X. Qiu L, et al. J Clin Immunol. 2022 May;42(4):837-850. doi: 10.1007/s10875-022-01218-4. Epub 2022 Mar 16. J Clin Immunol. 2022. PMID: 35296988
We sought to review the clinical phenotypes, immunological characteristics, treatment, and prognosis of APDS in a large genetically defined Chinese pediatric cohort. ...Twelve patients underwent hematopoietic stem cell transplantation (HSCT) and had a satisfying prognos …
We sought to review the clinical phenotypes, immunological characteristics, treatment, and prognosis of APDS in a large genetically d …
Update on Infections in Primary Antibody Deficiencies.
Demirdag YY, Gupta S. Demirdag YY, et al. Front Immunol. 2021 Feb 11;12:634181. doi: 10.3389/fimmu.2021.634181. eCollection 2021. Front Immunol. 2021. PMID: 33643318 Free PMC article. Review.
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.
Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T. Okano T, et al. J Allergy Clin Immunol. 2019 Jan;143(1):266-275. doi: 10.1016/j.jaci.2018.04.032. Epub 2018 May 18. J Allergy Clin Immunol. 2019. PMID: 29778502 Clinical Trial.
OBJECTIVE: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. ...
OBJECTIVE: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explo …
Case Report: A Severe Paediatric Presentation of COVID-19 in APDS2 Immunodeficiency.
Sanchez Clemente N, Penner J, Breuer J, Ip W, Booth C. Sanchez Clemente N, et al. Front Immunol. 2022 May 30;13:881259. doi: 10.3389/fimmu.2022.881259. eCollection 2022. Front Immunol. 2022. PMID: 35707532 Free PMC article.
We report a case of a 4-year-old boy with activated PI3K delta syndrome type 2 (APDS2) with a protracted and severe COVID-19 course with both inflammatory and acute respiratory features. He was treated with remdesivir, nitazoxanide, high-dose corticosteroids, and tocilizum …
We report a case of a 4-year-old boy with activated PI3K delta syndrome type 2 (APDS2) with a protracted and severe COVID-19 course w …
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. ...Although most manifestations occur by age 15, adult-onset and asymptomatic cour …
The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcom …
A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.
Cansever M, Zietara N, Chiang SCC, Ozcan A, Yilmaz E, Karakukcu M, Rohlfs M, Somekh I, Canoz O, Abdulrezzak U, Bryceson Y, Klein C, Unal E, Patiroglu T. Cansever M, et al. J Pediatr Hematol Oncol. 2020 Mar;42(2):156-159. doi: 10.1097/MPH.0000000000001487. J Pediatr Hematol Oncol. 2020. PMID: 31033788
Next-generation sequencing returned a de novo heterozygous missense variant in PIK3CD (LRG_191t1: c.3061G>A; p.Glu1021Lys), confirming the primary immunodeficiency. After 2 courses of ifosfamide, cisplatin, and etoposide combined with brentuximab, the patient successful …
Next-generation sequencing returned a de novo heterozygous missense variant in PIK3CD (LRG_191t1: c.3061G>A; p.Glu1021Lys), confirming th …