ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

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

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.

Immunodeficiency

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

J Clin Immunol.

Kuehn HS, Bernasconi A, Niemela JE, Almejun MB, Gallego WAF, Goel S, Stoddard JL, Sánchez RGP, Franco CAA, Oleastro M, Grunebaum E, Ballas Z, Cunningham-Rundles C, Fleisher TA, Franco JL, Danielian S, Rosenzweig SD

doi: 10.1007/s10875-020-00842-2.

Immunodeficiency

Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report

Clin Case Rep.

Horowitz R, Freeman PR

doi: 10.1002/ccr3.1556.

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.

Rapidly progressive interstitial lung disease due to anti-MDA5 antibodies without skin involvement: a case report and literature review

Rheumatol Int.

González-Moreno J, Raya-Cruz M, Losada-Lopez I, Cacheda AP, Oliver C, Colom B

doi: 10.1007/s00296-018-3991-7.

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

Case Rep Pediatr.

Rafiq NK, Lachmann H, Joensen F, Herlin T, Brogan PA

doi: 10.1155/2018/3514645.

Immunodeficiency

Refractory Chronic Spontaneous Urticaria Treated With Omalizumab in an Adolescent With Common Variable Immunodeficiency

Front Immunol.

Comberiati P, Costagliola G, Carli N, Legitimo A, D'Elios S, Consolini R, Peroni DG

doi: 10.3389/fimmu.2019.01700.

Immunodeficiency

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Front Immunol.

Shields AM, Pagnamenta AT, Pollard AJ, OxClinWGS., Taylor JC, Allroggen H, Patel SY

doi: 10.3389/fimmu.

Related content

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

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

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report

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

Rapidly progressive interstitial lung disease due to anti-MDA5 antibodies without skin involvement: a case report and literature review

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

Refractory Chronic Spontaneous Urticaria Treated With Omalizumab in an Adolescent With Common Variable Immunodeficiency

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods