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

Immunodeficiency

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

Front Immunol.

Ricci S, Lodi L, Serranti D, Moroni M, Belli G, Mancano G, La Barbera A, Forzano G, Mangone G, Indolfi G, Azzari C

doi: 10.3389/fimmu.2019.01955.

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

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

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

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

Clin Exp Immunol.

Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martin-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martinez-Gallo M, Franco-Jarava C

doi: 10.1111/cei.13405.

Melanoma and Skin CancerImmunotherapy

Neoadjuvant Immunotherapy with combined Ipilimumab and Nivolumab in Melanoma Patients with Primary or In-transit Disease

Br J Dermatol.

Weber J, Glutsch V, Geissinger E, Haug L, Lock JF, Schneider F, Kneitz H, Goebeler M, Schilling B, Gesierich A

doi: 10.1111/bjd.18739.

ImmunodeficiencyFurther Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

Idiopathic, Refractory Sweet's Syndrome Associated with Common Variable Immunodeficiency: a Case Report and Literature Review

Curr Allergy Asthma Rep.

Cook QS, Zdanski CJ, Burkhart CN, Googe PB, Thompson P, Wu EY

doi: 10.1007/s11882-019-0864-4.

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.

Related content

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

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

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2

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

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

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

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