Literature DB >> 31677488

Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature.

David Kim1, Aysegul Uner2, Arzu Saglam2, Amy Chadburn3, Genevieve M Crane3.   

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Year:  2019        PMID： 31677488     DOI： 10.1016/j.anndiagpath.2019.151413

Source DB:  PubMed          Journal:  Ann Diagn Pathol        ISSN： 1092-9134            Impact factor:   2.090


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  3 in total

1.  CARMIL2-related immunodeficiency manifesting with photosensitivity.

Authors:  Leila H Shayegan; Maria C Garzon; Kimberly D Morel; Rachel Borlack; Patricia M Vuguin; Kara G Margolis; Yesim Y Demirdag; Elaine M Pereira; Christine T Lauren
Journal:  Pediatr Dermatol       Date:  2020-04-27       Impact factor: 1.588

2.  A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.

Authors:  Jennifer R Yonkof; Ajay Gupta; Cesar M Rueda; Shamlal Mangray; Benjamin T Prince; Hemalatha G Rangarajan; Mohammad Alshahrani; Elizabeth Varga; Timothy P Cripe; Roshini S Abraham
Journal:  Front Immunol       Date:  2020-06-18       Impact factor: 7.561

3.  Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case.

Authors:  Ikram Ul Haq Chaudhry; Ahmed Alshaer; Burair Al Jassas; Amal Alkhunizi; Mohammad Alsaiary; Tasneem A AlMubayaedh; Abass A AlMalki; Ahmed Almesfer
Journal:  Ann Med Surg (Lond)       Date:  2021-06-06
  3 in total

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