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

Further Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies

Front Immunol.

Karanovic D, Michelow IC, Hayward AR, DeRavin SS, Delmonte OM, Grigg ME, Dobbs AK, Niemela JE, Stoddard J, Alhinai Z, Rybak N, Hernandez N, Pittaluga S, Rosenzweig SD, Uzel G, Notarangelo LD

doi: 10.3389/fimmu.2019.00077.

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.

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 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

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

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2

Front Immunol.

Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K, Worth A, Genomics England Research Consortium., Klein N, Eleftheriou D, Brogan P

doi: 10.3389/fimmu.2019.02589.

Immunodeficiency

A novel complete autosomal recessive STAT1 LOF variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammation

J Allergy Clin Immunol Pract.

Boehmer DFR, Koehler LM, Magg T, Metzger P, Rohlfs M, Ahlfeld J, Rack-Hoch A, Reiter K, Albert MH, Endres S, Rothenfusser S, Klein C, Koenig LM, Hauck F

doi: 10.1016/j.jaip.2020.06.034.

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.

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