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Biblio
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Kawai, Tomoki
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A
Yoshioka T
,
Nishikomori R
,
Hara J
,
Okada K
,
Hashii Y
,
Okafuji I
,
Nodomi S
,
Kawai T
,
Izawa K
,
Ohnishi H
, et al.
Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation.
J Clin Immunol. 2013.
PubMed
Google Scholar
D
Hiejima E
,
Nakase H
,
Matsuura M
,
Honzawa Y
,
Higuchi H
,
Saida S
,
Umeda K
,
Hiramatsu H
,
Adachi S
,
Izawa K
, et al.
Diagnostic Accuracy of Endoscopic Features of Pediatric Acute Gastrointestinal Graft-versus-host Disease.
Dig Endosc. 2016.
PubMed
Google Scholar
E
Yakici N
,
Kreins AY
,
Catak MCihangir
,
Babayeva R
,
Erman B
,
Kenney H
,
Gungor HEke
,
Cea PA
,
Kawai T
,
Bosticardo M
, et al.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol. 2023:109757.
PubMed
Google Scholar
G
Pavel-Dinu M
,
Gardner CL
,
Nakauchi Y
,
Kawai T
,
Delmonte OM
,
Palterer B
,
Bosticardo M
,
Pala F
,
Viel S
,
Malech HL
, et al.
Genetically Corrected RAG2-SCID Human Hematopoietic Stem Cells Restore V(D)J-Recombinase and Rescue Lymphoid Deficiency.
Blood Adv. 2023.
PubMed
Google Scholar
H
Schuetz C
,
Gerke J
,
Ege MJohannes
,
Walter JEszter
,
Kusters M
,
Worth AJJ
,
Kanakry JA
,
Dimitrova D
,
Wolska-Kusnierz B
,
Chen K
, et al.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Blood. 2022.
PubMed
Google Scholar