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

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.

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

doi: 10.1186/s12881-018-0647-0.

Immunodeficiency

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

Clin Immunol.

Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV

doi: 10.1016/j.clim.

Immunodeficiency

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

Case Reports Immunol.

Shrestha P, Sabharwal G, Ghaffari G

doi: 10.1155/2018/4860902.

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.

Immunodeficiency

Novel NCF2 Mutation Causing Chronic Granulomatous Disease

J Clin Immunol.

Roth IL, Salamon P, Freund T, Gadot YB, Baron S, Hershkovitz T, Shefler I, Hanna S, Confino-Cohen R, Bentur L, Hagin D

doi: 10.1007/s10875-020-00820-8.

Immunodeficiency

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma

J Clin Immunol.

Buchbinder D, Kirov I, Danielson J, Shah NN, Freeman AF, Chavan RS, Su HC

doi: 10.1007/s10875-019-00663-y.

Immunodeficiency

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

Clin Immunol.

Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C, Ehl S, Castro CN

doi: 10.1016/j.clim.

Further Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation

Rheumatology (Oxford).

Kuemmerle-Deschner JB, Welzel T, Hoertnagel K, Tsiflikas I, Hospach A, Liu X, Schlipf S, Hansmann S, Samba SD, Griesinger A, Benseler SM, Weber AN

doi: 10.1093/rheumatology/keaa119.

Related content

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

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

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

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

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

Novel NCF2 Mutation Causing Chronic Granulomatous Disease

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