Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Immunodeficiency

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019)

J Clin Immunol.

Lougaris V, Pession A, Baronio M, Soresina A, Rondelli R, Gazzurelli L, Benvenuto A, Martino S, Gattorno M, Biondi A, Zecca M, Marinoni M, Fabio G, Aiuti A, Marseglia G, Putti MC, Agostini C, Lunardi C, Tommasini A, Bertolini P, Gambineri E, Consolini R, Matucci A, Azzari C, Danieli MG, Paganelli R, Duse M, Cancrini C, Moschese V, Chessa L, Spadaro G, Civino A, Vacca A, Cardinale F, Martire B, Carpino L, Trizzino A, Russo G, Cossu F, Badolato R, Pietrogrande MC, Quinti I, Rossi P, Ugazio A, Pignata C, Plebani A

doi: 10.1007/s10875-020-00844-0.

Immunodeficiency

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Front Immunol.

Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B

doi: 10.3389/fimmu.2019.00297.

Immunodeficiency

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

J Clin Immunol.

Audrain MAP, Léger AJC, Hémont CAF, Mirallié SM, Cheillan D, Rimbert MGM, Le Thuaut AM, Sébille-Rivain VA, Prat A, Pinel EMQ, Divry E, Dert CGL, Fournier MAG, Thomas CJC

doi: 10.1007/s10875-

Immunodeficiency

The clinical and immunological features of patients with primary antibody deficiencies

Endocr Metab Immune Disord Drug Targets.

Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Poorrostami K, Rafiemanesh H, Yazdani R, Kiaee F, Habibi S, Abouhamzeh K, Mohammadi H, Qorbani M, Abolhassani H, Aghamohammadi A

doi: 10.2174/

Immunodeficiency

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology

J Allergy Clin Immunol.

Chinn IK, Chan A, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM 3rd, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg ND, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE

doi: 10.1016/j.jaci.2019.09.009.

Immunodeficiency

Analysis of Scoring Systems for Primary Immunodeficiency Diagnosis in Adult Immunology Clinics

Clin Exp Immunol

Toms K, Gkrania-Klotsas E, Kumararatne D

doi: 10.1111/cei.13526

Immunodeficiency

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

J Allergy Clin Immunol Pract.

Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS

doi: 10.1016/j.jaip.2020.08.008.

Further Publications DermatologyFurther Publications ImmunologyFurther Publications Rheumatology

Immunology of COVID-19: mechanisms, clinical outcome, diagnostics and perspectives - a report of the European Academy of Allergy and Clinical Immunology (EAACI)

Allergy.

Sokolowska M, Lukasik Z, Agache I, Akdis CA, Akdis D, Akdis M, Barcik W, Brough H, Eiwegger T, Eliaszewicz A, Eyerich S, Feleszko W, Gomez Casado C, Hoffmann-Sommergruber K, Janda J, Jiménez-Saiz R, Jutel M, Knol E, Kortekaas Krohn I, Kothari A, Makowska J, Moniuszko M, Morita H, O'Mahony L, Nadeau K, Ozdemir C, Pali-Schöll I, Palomares O, Papaleo F, Prunicki M, Schmidt-Weber CB, Sediva A, Schwarze J, Shamji MH, Tramper-Stranders G, van W, de Veen, Untersmayr E

doi: 10.1111/all.14462.

Immunodeficiency

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature

J Eur Acad Dermatol Venereol.

Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C

doi: 10.1111/jdv.15568.

Related content

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019)

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

The clinical and immunological features of patients with primary antibody deficiencies

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology

Analysis of Scoring Systems for Primary Immunodeficiency Diagnosis in Adult Immunology Clinics

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

Immunology of COVID-19: mechanisms, clinical outcome, diagnostics and perspectives - a report of the European Academy of Allergy and Clinical Immunology (EAACI)

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature