Research & Literature

Mechanisms of action of Ig preparations: immunomodulatory and anti-inflammatory effects.

Matucci A, Maggi E, Vultaggio A

Frontiers in immunology 2014; (5()):690 doi:10.3389/fimmu.2014.00690.

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.

Bornstein SR, Allolio B, Arlt W, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(2)):364-89 doi:10.1210/jc.2015-1710.

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.

Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group.

Jolles S, Sánchez-Ramón S, Quinti I, et al.

Clinical and experimental immunology 2017; (190(2)):226-234 doi:10.1111/cei.13012.

New insights in the use of immunoglobulins for the management of immune deficiency (PID) patients.

Krivan G, Jolles S, Granados EL, et al.

American journal of clinical and experimental immunology 2017; (6(5)):76-83.

Group 6. Modalities and frequency of monitoring of patients with adrenal insufficiency. Patient education.

Guignat L, Proust-Lemoine E, Reznik Y, Zenaty D

Annales d'endocrinologie 2017; (78(6)):544-558 doi:10.1016/j.ando.2017.10.009.

Adrenal insufficiency, steroid sick day rules and the paediatric endocrine nurse.

Makaya T, Gilbert J, Ryan F, Watts W

Nursing children and young people 2018; (30(2)):26-31 doi:10.7748/ncyp.2018.e1022.

[De novo NFκB2 gene mutation associated common variable immunodeficiency].

Luo MZ, Xu T, Xue XH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(8)):628-632 doi:10.3760/cma.j.issn.0578-1310.2018.08.014.

Central adrenal insufficiency in children and adolescents.

Patti G, Guzzeti C, Di Iorgi N, et al.

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):425-444 doi:10.1016/j.beem.2018.03.012.

Central adrenal insufficiency: open issues regarding diagnosis and glucocorticoid treatment.

Ceccato F, Scaroni C

Clinical chemistry and laboratory medicine 2019; (57(8)):1125-1135.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

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.

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.

Adrenal crisis: prevention and management in adult patients.

Dineen R, Thompson CJ, Sherlock M

Therapeutic advances in endocrinology and metabolism 2019; (10()):2042018819848218 doi:10.1177/2042018819848218.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Aird A, Lagos M, Vargas-Hernández A, et al.

Frontiers in pediatrics 2019; (7()):303 doi:10.3389/fped.2019.00303.

Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.

Woodcock T, Barker P, Daniel S, et al.

Anaesthesia 2020; (75(5)):654-663 doi:10.1111/anae.14963.

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.

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, et al.

European journal of immunology 2020; (50(10)):1432-1446 doi:10.1002/eji.202048713.

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.

Wirasinha RC, Davies AR, Srivastava M, et al.

The Journal of experimental medicine 2021; (218(2)) doi:10.1084/jem.20200476.

Adrenal insufficiency.

Husebye ES, Pearce SH, Krone NP, Kämpe O

Lancet (London, England) 2021; (397(10274)):613-629 doi:10.1016/S0140-6736(21)00136-7.

Acute Illness and Death in Children With Adrenal Insufficiency.

Worth C, Vyas A, Banerjee I, et al.

Frontiers in endocrinology 2021; (12()):757566 doi:10.3389/fendo.2021.757566.

[Emergency card, emergency medication, and information leaflet for the prevention and treatment of adrenal crisis (Addison crisis): an Austrian consensus document].

Pilz S, Krebs M, Bonfig W, et al.

Journal fur klinische Endokrinologie und Stoffwechsel 2022; (15(1)):5-27 doi:10.1007/s41969-022-00155-2.

Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.

Ali SR, Bryce J, Krone NP, et al.

Hormone research in paediatrics 2022; (95(4)):363-373 doi:10.1159/000525075.

A clinician's guide for administration of high-concentration and facilitated subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency diseases.

Epland K, Suez D, Paris K

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):87 doi:10.1186/s13223-022-00726-7.

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.

The search for a unifying diagnosis involving neurological, endocrine and immune dysfunction: a case report of a novel presentation of DAVID syndrome.

Price M, Hofman PL, Hsiao K, Jones HF

BMC pediatrics 2022; (22(1)):706 doi:10.1186/s12887-022-03760-x.

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.

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Mushtaq T, Ali SR, Boulos N, et al.

Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.

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.

Diagnosis and management of secondary adrenal crisis.

Martel-Duguech L, Poirier J, Bourdeau I, Lacroix A

Reviews in endocrine & metabolic disorders 2024; (25(3)):619-637 doi:10.1007/s11154-024-09877-x.

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 therapies for primary immunodeficiency diseases (part 2): considerations for dosing strategies.

Li Z, Mahmood I

Immunotherapy 2024; (16(13)):895-905 doi:10.1080/1750743X.2024.2382074.

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()).

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

People With Adrenal Insufficiency Who Are in Adrenal Crisis Are Frequently Unable to Self-Administer Rescue Injections.

Hover WJ, Krein AD, Kallet J, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2025; (31(5)):625-630 doi:10.1016/j.eprac.2025.02.017.

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.

Barbati F, Lodi L, Boscia S, et al.

European journal of immunology 2025; (55(3)):e202451433 doi:10.1002/eji.202451433.

Endocrinopathies associated with pediatric common variable immunodeficiency.

Neneman J, Niedziela M, Dyrka K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(9)):946-955 doi:10.1515/jpem-2025-0112.

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.

Napiorkowska-Baran K, Cofta S, Treichel P, et al.

Life (Basel, Switzerland) 2025; (15(12)) doi:10.3390/life15121838.

Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype.

Sevinç S, İslamoğlu C, Haskoloğlu Ş, et al.

Scandinavian journal of immunology 2026; (104(3)):e70142 doi:10.1111/sji.70142.

Multidisciplinary Delphi consensus on malignancy screening in patients with common variable immunodeficiency.

Cabanero-Navalon MD, de Andrés-Martín A, Gil AA, et al.

Frontiers in immunology 2026; (17()):1897051 doi:10.3389/fimmu.2026.1897051.