A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa

Immunodeficiency

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

BMC Med Genet.

Esmaeilzadeh H, Bordbar MR, Dastsooz H, Silawi M, Fard MAF, Adib A, Kafashan A, Tabatabaei Z, Sadeghipour F4, Faghihi MA

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Autoimmune Disease

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C, p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Front Immunol.

Endres D, Süß P, Maier SJ, Friedel E, Nickel K, Ziegler C, Fiebich BL, Glocker FX, Stock F, Egger K, Lange T, Dacko M, Venhoff N, Erny D, Doostkam S, Komlosi K, Domschke K, Tebartz van Elst L

doi: 10.3389/fimmu.2019.00412.

Immunodeficiency

Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome

J Clin Endocrinol Metab.

Nasomyont N, Lindsley AW, Assa'ad A, Dawson DB, Neilson DE, Brady CC, Rutter MM

doi: 10.1210/jc.

Immunodeficiency

X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report

J Clin Immunol.

Krishnan VP, Taur P, Pandrowala A, Madkaikar M, Desai M

doi: 10.1007/s10875-020-00747-0.

Immunodeficiency

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

Front Immunol.

Zangari P, Cifaldi C, Di Cesare S, Di Matteo G, Chiriaco M, Amodio D, Cotugno N, De Luca M, Surace C, Ladogana S, Gardini S, Merli P, Algeri M, Rossi P, Palma P, Cancrini C, Finocchi A

doi: 10.3389/fimmu.2019.02471.

Immunodeficiency

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

Front Immunol.

Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E

doi: 10.3389/fimmu.2019.02194.

Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl

JAMA Dermatol.

Krakowski AC, Ozog DM, Ginsberg D, Cheng C, Chaffins ML

doi: 10.1001/

Immunodeficiency

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

J Clin Immunol.

Tuovinen EA, Grönholm J, Öhman T, Pöysti S, Toivonen R, Kreutzman A, Heiskanen K, Trotta L, Toiviainen-Salo S, Routes JM, Verbsky J, Mustjoki S, Saarela J, Kere J, Varjosalo M, Hänninen A, Seppänen MRJ

doi: 10.1007/s10875-020-00745-2.

Occurrence of Acute Cerebellar Syndrome After Topical Application of Fluorouracil

JAMA Dermatol.

Fine JD, Dewan A, Miller JL

doi: 10.1001/

Related content

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C, p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome

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Occurrence of Acute Cerebellar Syndrome After Topical Application of Fluorouracil