The IL2RG R328X nonsense mutation allows partial STAT5 phosphorylation and defines a critical region involved in leaky-SCID phenotype

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

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

Progressive B Cell Loss in Revertant X-SCID

J Clin Immunol.

Lin CH, Kuehn HS, Thauland TJ, Lee CM, De Ravin SS, Malech HL, Keyes TJ, Jager A, Davis KL, Garcia-Lloret MI, Rosenzweig SD, Butte MJ

doi: 10.1007/s10875-020-00825-3.

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.

Further Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

J Clin Immunol.

Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI

doi: 10.1007/s10875-020-00794-7.

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

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.

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

Natural Clearance of Prolonged VDPV Infection in a Child With Primary Immunodeficiency Disorder

Front Immunol.

Mohanty MC, Madkaikar MR, Desai M, Aluri J, Varose SY, Taur P, Sharma DK, Nalavade UP, Rane SV, Gupta M, Shabarish S, Dalvi A, Deshpande JM

doi: 10.3389/fimmu.2019.01567.

Related content

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

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

Progressive B Cell Loss in Revertant X-SCID

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

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

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

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

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

Natural Clearance of Prolonged VDPV Infection in a Child With Primary Immunodeficiency Disorder