Research & Literature

Vaccination in patients with primary immune deficiency, secondary immune deficiency and autoimmunity with immune regulatory abnormalities.

Eibl MM, Wolf HM

Immunotherapy 2015; (7(12)):1273-92 doi:10.2217/IMT.15.74.

[Induction of central tolerance by the factor Aire: molecular and epigenetic regulation].

Lopes N, Ferrier P, Irla M

Medecine sciences : M/S 2015; (31(8-9)):742-7 doi:10.1051/medsci/20153108012.

Autoimmune regulator and self-tolerance - molecular and clinical aspects.

Abramson J, Husebye ES

Immunological reviews 2016; (271(1)):127-40 doi:10.1111/imr.12419.

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, et al.

JCI insight 2016; (1(13)).

Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management.

Azizi G, Abolhassani H, Asgardoon MH, et al.

Expert review of clinical immunology 2017; (13(2)):101-115 doi:10.1080/1744666X.2016.1224664.

FOXN1 deficient nude severe combined immunodeficiency.

Rota IA, Dhalla F

Orphanet journal of rare diseases 2017; (12(1)):6 doi:10.1186/s13023-016-0557-1.

Follicular T Cells from smB- Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype.

Cunill V, Clemente A, Lanio N, et al.

Frontiers in immunology 2017; (8()):174 doi:10.3389/fimmu.2017.00174.

Alopecia areata.

Pratt CH, King LE, Messenger AG, et al.

Nature reviews. Disease primers 2017; (3()):17011 doi:10.1038/nrdp.2017.11.

Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort.

Westh L, Mogensen TH, Dalgaard LS, et al.

Scandinavian journal of immunology 2017; (85(6)):450-461 doi:10.1111/sji.12551.

A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

Lal RA, Bachrach LK, Hoffman AR, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(7)):2127-2130 doi:10.1210/jc.2017-00341.

FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.

Radha Rama Devi A, Panday NN, Naushad SM

Gene 2017; (627()):222-225 doi:10.1016/j.gene.2017.06.033.

Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry.

Feuille EJ, Anooshiravani N, Sullivan KE, et al.

Journal of clinical immunology 2018; (38(1)):28-34 doi:10.1007/s10875-017-0456-9.

Childhood alopecia areata-Data from the National Alopecia Areata Registry.

Wohlmuth-Wieser I, Osei JS, Norris D, et al.

Pediatric dermatology 2018; (35(2)):164-169 doi:10.1111/pde.13387.

Trichoscopy of alopecia areata: An update.

Waśkiel A, Rakowska A, Sikora M, et al.

The Journal of dermatology 2018; (45(6)):692-700 doi:10.1111/1346-8138.14283.

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency.

Heiman S, Weil M, Shulman LM, et al.

Immunologic research 2018; (66(3)):437-443 doi:10.1007/s12026-018-9007-6.

Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders.

Ameratunga R, Ahn Y, Jordan A, et al.

Expert review of clinical immunology 2018; (14(7)):549-556 doi:10.1080/1744666X.2018.1481750.

Sequential cyclic changes of hair roots revealed by dermoscopy demonstrate a progressive mechanism of diffuse alopecia areata over time.

Zhang X, Ye Y, Zhu Z, et al.

Experimental dermatology 2020; (29(3)):223-230 doi:10.1111/exd.13799.

Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.

Arousse A, Boussofara L, Mokni S, et al.

International journal of dermatology 2019; (58(7)):811-815 doi:10.1111/ijd.14381.

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

Klemann C, Camacho-Ordonez N, Yang L, et al.

Frontiers in immunology 2019; (10()):297 doi:10.3389/fimmu.2019.00297.

[Treatment of ITP and AIHA in CVID: A systematic literature review].

Lacombe V, Lozac'h P, Orvain C, et al.

La Revue de medecine interne 2019; (40(8)):491-500 doi:10.1016/j.revmed.2019.02.006.

Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.

Nasomyont N, Lindsley AW, Assa'ad A, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(9)):4051-4057 doi:10.1210/jc.2019-00469.

EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.

van Dongen JJM, van der Burg M, Kalina T, et al.

Frontiers in immunology 2019; (10()):1271 doi:10.3389/fimmu.2019.01271.

Autoimmunity in common variable immunodeficiency.

Agarwal S, Cunningham-Rundles C

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019; (123(5)):454-460 doi:10.1016/j.anai.2019.07.014.

Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.

Le Coz C, Bengsch B, Khanna C, et al.

The Journal of allergy and clinical immunology 2019; (144(6)):1660-1673 doi:10.1016/j.jaci.2019.08.007.

Antibody deficiency testing for primary immunodeficiency: A practical review for the clinician.

Marsh RA, Orange JS

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019; (123(5)):444-453 doi:10.1016/j.anai.2019.08.012.

Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.

Edwards ESJ, Bosco JJ, Aui PM, et al.

Frontiers in immunology 2019; (10()):2593 doi:10.3389/fimmu.2019.02593.

Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.

Nogueira M, Pinheiro M, Maia R, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020; (29(3)):111-113 doi:10.1297/cpe.29.111.

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features.

Giardino G, Borzacchiello C, De Luca M, et al.

Frontiers in immunology 2020; (11()):1837 doi:10.3389/fimmu.2020.01837.

Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.

Rizvi FS, Zainaldain H, Rafiemanesh H, et al.

Expert review of clinical immunology 2020; (16(12)):1227-1235 doi:10.1080/1744666X.2021.1850272.

The Immune Dysregulation of Common Variable Immunodeficiency Disorders.

Fernando SL, Jang HS, Li J

Immunology letters 2021; (230()):21-26 doi:10.1016/j.imlet.2020.12.002.

Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.

Ameratunga R, Allan C, Lehnert K, Woon ST

Clinical reviews in allergy & immunology 2021; (61(2)):226-235 doi:10.1007/s12016-020-08828-z.

Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.

Janssen LMA, van der Flier M, de Vries E

Frontiers in immunology 2021; (12()):620709 doi:10.3389/fimmu.2021.620709.

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.

Sharifinejad N, Zaki-Dizaji M, Tebyanian S, et al.

Expert review of clinical immunology 2021; (17(8)):807-817 doi:10.1080/1744666X.2021.1925543.

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.

Collins C, Sharpe E, Silber A, et al.

Journal of clinical immunology 2021; (41(5)):881-895 doi:10.1007/s10875-021-01059-7.

Common Variable Immunodeficiency and Autoimmune Diseases: A Retrospective Study of 95 Adult Patients in a Single Tertiary Care Center.

Mormile I, Punziano A, Riolo CA, et al.

Frontiers in immunology 2021; (12()):652487 doi:10.3389/fimmu.2021.652487.

Infections in the monogenic autoimmune syndrome APECED.

Oikonomou V, Break TJ, Gaffen SL, et al.

Current opinion in immunology 2021; (72()):286-297 doi:10.1016/j.coi.2021.07.011.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Ferré EMN, Schmitt MM, Lionakis MS

Frontiers in pediatrics 2021; (9()):723532 doi:10.3389/fped.2021.723532.

Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach.

Szczawińska-Popłonyk A, Ta Polska-Jóźwiak K, Schwartzmann E, Popłonyk N

Frontiers in pediatrics 2022; (10()):855200 doi:10.3389/fped.2022.855200.

Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults.

Fortier JC, Haltigan E, Cavero-Chavez V, et al.

Journal of clinical immunology 2022; (42(6)):1270-1279 doi:10.1007/s10875-022-01290-w.

Hair and Nail Conditions: Alopecia Evaluation.

Wu S

FP essentials 2022; (517()):11-16.

Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.

Bjørklund G, Pivin M, Hangan T, et al.

Autoimmunity reviews 2022; (21(8)):103135 doi:10.1016/j.autrev.2022.103135.

An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency.

Hashash JG, Squire J, Francis FF, et al.

The American journal of gastroenterology 2022; (117(11)):1743-1752 doi:10.14309/ajg.0000000000002027.

Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.

Sjøgren T, Bratland E, Røyrvik EC, et al.

Journal of autoimmunity 2022; (133()):102917 doi:10.1016/j.jaut.2022.102917.

Hydroxychloroquine for granuloma annulare: A case report on secondary hair growth in alopecia universalis.

Osman S, Traboulsi D

SAGE open medical case reports 2023; (11()):2050313X231152066 doi:10.1177/2050313X231152066.

The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.

Ameratunga R, Edwards ESJ, Lehnert K, et al.

The journal of allergy and clinical immunology. In practice 2023; (11(6)):1646-1664 doi:10.1016/j.jaip.2023.01.048.

Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.

Fevang B

Expert review of clinical immunology 2023; (19(6)):627-638 doi:10.1080/1744666X.2023.2198208.

Adverse events in patients treated with Jak-inhibitors for alopecia areata: A systematic review.

Sechi A, Song J, Dell'Antonia M, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2023; doi:10.1111/jdv.19090.

Baricitinib as the first systemic treatment for severe alopecia areata.

Kincaid CM, Arnold JD, Mesinkovska NA

Expert review of clinical immunology 2023; (19(6)):565-573 doi:10.1080/1744666X.2023.2200166.

Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.

Friman V, Quinti I, Davydov AN, et al.

Cell reports 2023; (42(5)):112446 doi:10.1016/j.celrep.2023.112446.

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.

Mac TT, Castinetti F, Bar C, et al.

Journal of neuroendocrinology 2023; (35(6)):e13287 doi:10.1111/jne.13287.

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.

Paldino G, Faienza MF, Cappa M, et al.

Frontiers in immunology 2023; (14()):1172369 doi:10.3389/fimmu.2023.1172369.

Alopecia areata and occurrence of vitiligo and hypothyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Englander H, Ferré EMN, Schmitt MM, et al.

Pediatric dermatology 2023; (40(5)):857-859 doi:10.1111/pde.15380.

Hair Loss Profiles and Ritlecitinib Efficacy in Patients with Alopecia Areata: Post Hoc Analysis of the ALLEGRO Phase 2b/3 Study.

Thaçi D, Tziotzios C, Ito T, et al.

Dermatology and therapy 2023; (13(11)):2621-2634 doi:10.1007/s13555-023-00997-x.

A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.

Vitozzi S, Correa SG, Lozano A, et al.

Immunogenetics 2024; (76(1)):69-74 doi:10.1007/s00251-023-01324-6.

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review.

Sandru F, Petca RC, Dumitrascu MC, et al.

Biomedicines 2024; (12(1)) doi:10.3390/biomedicines12010132.

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.

Ameratunga R, Woon ST, Leung E, et al.

Seminars in arthritis and rheumatism 2024; (65()):152387 doi:10.1016/j.semarthrit.2024.152387.

Limitations in the clinical utility of vaccine challenge responses in the evaluation of primary antibody deficiency including Common Variable Immunodeficiency Disorders.

Ameratunga R, Longhurst H, Leung E, et al.

Clinical immunology (Orlando, Fla.) 2024; (266()):110320 doi:10.1016/j.clim.2024.110320.

Primary Immunodeficiency: Specific antibody deficiency with normal IgG.

Hatcher VR, Alix VC, Hellu TS, Schuldt MM

Allergy and asthma proceedings 2024; (45(5)):321-325 doi:10.2500/aap.2024.45.240057.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

Allergy and asthma proceedings 2024; (45(5)):364-370 doi:10.2500/aap.2024.45.240053.

Type-Specific Impacts of Protein Defects in Pathogenic NFKB2 Variants: Novel Clinical Findings From 138 Patients.

Meissner J, Fliegauf M, Grimbacher B, Klemann C

The journal of allergy and clinical immunology. In practice 2025; (13(1)):192-201 doi:10.1016/j.jaip.2024.10.015.

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Baran A, Atılgan Lülecioğlu A, Gao L, et al.

Journal of clinical immunology 2024; (45(1)):48.

Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation.

Mac TT, Fauquier T, Jullien N, et al.

eLife 2024; (12()).

Glucocorticoid Dosing and Implications for Vaccination: Evolution of Global Definitions.

Wang X, Patel C, Giles ML, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2025; (80(5)):998-1004 doi:10.1093/cid/ciae613.

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA, van Oers NSC

The Journal of allergy and clinical immunology 2025; (156(4)):845-853 doi:10.1016/j.jaci.2025.05.025.

Immunoglobulin G Trough Levels and Infection Risk in Adults with Inborn Errors of Immunity Receiving Immunoglobulin Therapy.

Aktaş ÖÖ, Özer NO, Kaplankıran C, et al.

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091549.

Current concepts: Common variable immunodeficiency.

Cunningham-Rundles C

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2026; (136(4)):376-386 doi:10.1016/j.anai.2025.11.009.

Common Variable Immunodeficiency Disorders: A perspective from New Zealand.

Ameratunga R, J Longhurst H, Lehnert K, et al.

Clinical reviews in allergy & immunology 2025; (68(1)):105 doi:10.1007/s12016-025-09099-2.

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

Kucuka I, Wolff ASB, Breivik L, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(7)):1927-1939 doi:10.1210/clinem/dgag060.

S3 guideline diagnostics and therapy in alopecia areata - Part 2: Therapy, psychosocial and cosmetic support.

Blume-Peytavi U, Constantinou A, Tomova-Simitchieva T, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2026; (24(8)):e1155-e1177 doi:10.1111/ddg.70130x.

Therapeutic update on alopecia areata: a critical review of standard and emerging targeted therapies.

Ferrara F

Inflammopharmacology 2026; (34(6)):4065-4074 doi:10.1007/s10787-026-02273-8.

Efficacy and Safety of Oral Janus Kinase Inhibitors in Adults and Adolescents with Alopecia Areata: A Systematic Review and Meta-Analysis of Randomised Controlled Trials.

Morriss S, Foo CH, Lin E, et al.

American journal of clinical dermatology 2026; (27(5)):925-943 doi:10.1007/s40257-026-01060-z.

Delphi Consensus Statement on Treatment of Severe Alopecia Areata in US Adults.

Gregoire S, Dewey E, Biba U, et al.

JAMA dermatology 2026; doi:10.1001/jamadermatol.2026.2336.

Scalp Biopsies for Alopecia.

Brunetti T, Misciali C, Rapparini L, et al.

Dermatopathology (Basel, Switzerland) 2026; (13(3)) doi:10.3390/dermatopathology13030044.