Diagnostic approach in a young adult with RAG1 variants initially diagnosed with specific antibody deficiency and bronchiectasis

被引:0
|
作者
Franson, Brady [1 ]
Potts, David Evan [2 ]
Ujhazi, Boglarka [2 ]
Miller, Rahim [1 ]
Blair, Grace [3 ]
Toth, Marta [2 ]
Wang, Chen [4 ]
Petrov, Andrej [5 ]
Walter, Jolan [1 ,6 ]
机构
[1] Univ S Florida, Tampa, FL USA
[2] Univ S Florida, Div Allergy & Immunol, Dept Pediat, Tampa, FL USA
[3] USF Hlth, Dept Pediat Allergy & Immunol, Tampa, FL USA
[4] NIAID, NIH, Bethesda, MD USA
[5] Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA
[6] Johns Hopkins Univ, Baltimore, MD 21287 USA
关键词
Partial recombination activating gene deficiency; Specific antibody deficiency; Anti-cytokine antibodies; Adult immunodeficiency;
D O I
10.1016/j.clim.2024.110129
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
187
引用
收藏
页数:1
相关论文
共 6 条
  • [1] Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency
    Lopez, Maria Chitty
    Yilmaz, Melis
    Diaz-Cabrera, Natalie M.
    Saco, Tara
    Ishmael, Leah
    Sotoudeh, Shannon
    Bindernagel, Constance
    Ujhazi, Boglarka
    Gordon, Sumai
    Potts, David Evan
    Danziger, Roger
    Bosticardo, Marita
    Kenney, Heather
    Illes, Peter
    Lee, Sena
    Harris, Megan
    Cuellar-Rodriguez, Jennifer
    Patel, Kapil N.
    Csomos, Krisztian
    Dimitrova, Dimana
    Kanakry, Jennifer A.
    Notarangelo, Luigi D.
    Walter, Jolan E.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2023, 11 (06): : 1972 - 1980
  • [2] A Pediatric Case of RAG1 Deficiency Caused by Novel Variants: From Diagnosis to Bone Marrow Transplant and Immune Reconstitution
    Desai, Shreena
    Dimitrova, Dimana
    Notarangelo, Luigi
    Galvez, Jorge
    Ale, Hanadys
    CLINICAL IMMUNOLOGY, 2024, 262
  • [3] Specific antibody deficiency to pneumococcal polysaccharide in a young adult with recurrent respiratory infections: a case report
    Ishimaru, Naoto
    Kanzawa, Yohei
    Nakajima, Takahiro
    Okamura, Kayoko
    Sando, Eiichiro
    Ito, Isao
    Kinami, Saori
    Ohnishi, Hisashi
    MONALDI ARCHIVES FOR CHEST DISEASE, 2023, 93 (03)
  • [4] Specific antibody response against the 23-valent pneumococcal vaccine in patients with α1-antitrypsin deficiency with and without bronchiectasis
    Miravitlles, M
    de Gracia, J
    Rodrigo, MJ
    Cruz, MJ
    Vendrell, M
    Vidal, R
    Morell, F
    CHEST, 1999, 116 (04) : 946 - 952
  • [5] Young adult with inherited PiMZ alpha-1-antitrypsin deficiency (A1ATD)-related bronchiectasis: characteristic of blood neutrophils and A1AT protein
    Aggarwal, Nupur
    Delgado, Beatriz Martinez
    Salipalli, Sandeep
    Matamala, Nerea
    Rademacher, Jessica
    Schwerk, Nicolaus
    Welte, Tobias
    Janciauskiene, Sabina
    Ringshausen, Felix C.
    EUROPEAN RESPIRATORY JOURNAL, 2016, 48
  • [6] PHASE 1 STUDY OF THE CD40 AGONISTIC MONOCLONAL ANTIBODY APX005M (SOTIGALIMAB) IN PEDIATRIC, ADOLESCENT, AND YOUNG ADULT PATIENTS WITH RECURRENT OR PROGRESSIVE CNS TUMORS AND NEWLY DIAGNOSED BRAIN STEM GLIOMA: A PEDIATRIC BRAIN TUMOR CONSORTIUM STUDY (PBTC-051; NCT03389802)
    Lindsay, Holly B.
    Billups, Catherine
    Baxter, Patricia
    Hwang, Eugene
    Lenzen, Alicia
    MacDonald, Tobey
    Pollack, Ian F.
    Robison, Nathan
    Vinitsky, Anna
    Poussaint, Tina Young
    Onar-Thomas, Arzu
    Fangusaro, Jason
    Dunkel, Ira J.
    NEURO-ONCOLOGY, 2024, 26