Research & Literature

Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.

Bezrodnik L, Di Giovanni D, Caldirola MS, et al.

Journal of clinical immunology 2015; (35(3)):264-72 doi:10.1007/s10875-015-0145-5.

Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience.

Bang P, Polak M, Woelfle J, et al.

Hormone research in paediatrics 2015; (83(5)):345-57 doi:10.1159/000371798.

STAT5B deficiency: Impacts on human growth and immunity.

Hwa V

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2016; (28()):16-20.

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Lorenzini T, Dotta L, Giacomelli M, et al.

Journal of leukocyte biology 2017; (101(1)):29-38 doi:10.1189/jlb.5RI0516-237RR.

Whole-lung lavage complicated with pneumothorax: a case report.

Ahn HJ, Yang M, Kim JA, et al.

Korean journal of anesthesiology 2017; (70(4)):462-466 doi:10.4097/kjae.2017.70.4.462.

Children's psychosocial functioning and parents' quality of life in paediatric short stature: The mediating role of caregiving stress.

Silva N, Bullinger M, Sommer R, et al.

Clinical psychology & psychotherapy 2018; (25(1)):e107-e118 doi:10.1002/cpp.2146.

Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver.

Hinrichs A, Kessler B, Kurome M, et al.

Molecular metabolism 2018; (11()):113-128 doi:10.1016/j.molmet.2018.03.006.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, et al.

Nature communications 2018; (9(1)):2105 doi:10.1038/s41467-018-04521-0.

Same Phenotype in Children with Growth Hormone Deficiency and Resistance.

Ioimo I, Guarracino C, Meazza C, et al.

Case reports in pediatrics 2018; (2018()):5902835 doi:10.1155/2018/5902835.

Significant reductions in tertiary hospital encounters and less travel for families after implementation of Paediatric Care Coordination in Australia.

Breen C, Altman L, Ging J, et al.

BMC health services research 2018; (18(1)):751 doi:10.1186/s12913-018-3553-4.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Scocchia A, Wigby KM, Masser-Frye D, et al.

NPJ genomic medicine 2019; (4()):5 doi:10.1038/s41525-018-0076-1.

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.

Auvin S, Bissler JJ, Cottin V, et al.

Orphanet journal of rare diseases 2019; (14(1)):91 doi:10.1186/s13023-019-1072-y.

Lung Isolation for Whole Lung Lavage in a Pediatric Patient With Atypical Airway Anatomy due to Short Stature: A Case Report.

Eklund SE, Levin DN

A&A practice 2019; (13(7)):253-256 doi:10.1213/XAA.0000000000001044.

Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.

Vargas-Hernández A, Witalisz-Siepracka A, Prchal-Murphy M, et al.

The Journal of allergy and clinical immunology 2020; (145(1)):345-357.e9 doi:10.1016/j.jaci.2019.09.016.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Ramírez L, Sanguineti N, Scaglia P, et al.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2020; (50()):61-70 doi:10.1016/j.ghir.2019.12.005.

Pulmonary alveolar proteinosis after lung transplantation.

Divithotawela C, Apte SH, Tan ME, et al.

Respirology case reports 2020; (8(5)):e00566 doi:10.1002/rcr2.566.

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.

Foley CL, Al Remeithi SS, Towe CT, et al.

Journal of clinical immunology 2021; (41(1)):136-146 doi:10.1007/s10875-020-00884-6.

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and cellular endocrinology 2021; (519()):111063 doi:10.1016/j.mce.2020.111063.

Effectiveness and safety of rhIGF1 therapy in patients with or without Laron syndrome.

Bang P, Woelfle J, Perrot V, et al.

European journal of endocrinology 2021; (184(2)):267-276.

An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy.

Dimitri P, Fernandez-Luque L, Banerjee I, et al.

Journal of medical Internet research 2021; (23(5)):e27446 doi:10.2196/27446.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Andrews A, Maharaj A, Cottrell E, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(11)):e4716-e4733 doi:10.1210/clinem/dgab437.

IL-2 Signaling Axis Defects: How Many Faces?

Consonni F, Favre C, Gambineri E

Frontiers in pediatrics 2021; (9()):669298 doi:10.3389/fped.2021.669298.

Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.

Kolemen AB, Akyuz E, Toprak A, et al.

Orphanet journal of rare diseases 2021; (16(1)):402 doi:10.1186/s13023-021-02046-2.

Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.

Seidl E, Schramm D, Schön C, et al.

Pediatric pulmonology 2022; (57(1)):273-277 doi:10.1002/ppul.25728.

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Pelham SJ, Caldirola MS, Avery DT, et al.

The Journal of allergy and clinical immunology 2022; (150(4)):931-946 doi:10.1016/j.jaci.2022.04.011.

Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.

Hamilton AA, Faitos S, Jones G, et al.

Journal of the Endocrine Society 2022; (6(8)):bvac086 doi:10.1210/jendso/bvac086.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

Catli G, Gao W, Foley C, et al.

Molecular and cellular endocrinology 2023; (559()):111799 doi:10.1016/j.mce.2022.111799.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Sandilands K, Williams A, Rylands AJ

Orphanet journal of rare diseases 2022; (17(1)):428 doi:10.1186/s13023-022-02561-w.

STAT5b: A master regulator of key biological pathways.

Smith MR, Satter LRF, Vargas-Hernández A

Frontiers in immunology 2022; (13()):1025373 doi:10.3389/fimmu.2022.1025373.

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, et al.

European journal of medical genetics 2023; (66(7)):104747 doi:10.1016/j.ejmg.2023.104747.

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Landi E, Karabatas L, Rodríguez Gomez T, et al.

Human molecular genetics 2023; (32(15)):2473-2484 doi:10.1093/hmg/ddad078.

STAT5b gain-of-function disease in a child with mycobacterial osteomyelitis of the skull: rare presentation of an emerging disease entity.

Kobets AJ, Ahmad S, Boyke A, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(8)):2071-2077 doi:10.1007/s00381-023-05997-y.

Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry.

Bang P, Polak M, Bossowski A, et al.

The Journal of clinical endocrinology and metabolism 2023; (109(1)):46-56 doi:10.1210/clinem/dgad479.

Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.

Muthuvel G, Al Remeithi SS, Foley C, et al.

Hormone research in paediatrics 2024; (97(2)):195-202 doi:10.1159/000531491.

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Velasco HM, Bertoli-Avella A, Jaramillo CJ, et al.

European journal of human genetics : EJHG 2024; (32(10)):1327-1337 doi:10.1038/s41431-024-01609-8.

Infections in Inborn Errors of STATs.

Wang C, Freeman AF

Pathogens (Basel, Switzerland) 2024; (13(11)) doi:10.3390/pathogens13110955.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

STAT wars: how STATopathies sabotage innate immunity.

Bloomfield M, Šabatková K, Paračková Z

Current opinion in allergy and clinical immunology 2026; (26(2)):113-121 doi:10.1097/ACI.0000000000001139.

The impact of the Indiana Complex Care Coordination Collaborative (IC4) on caregivers of children with complex medical conditions.

Munn EE, Griffin JW, R Ciccarelli M, Pangelinan MM

BMC pediatrics 2026; (26(1)).

Janus Kinase Inhibitors in Treatment of Primary Immune Regulatory Disorders.

Alsaati NF, Satter LF

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1491-1503 doi:10.1016/j.jaip.2026.05.019.

Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases.

Brandt M, Inhestern L, Zybarth D, et al.

Orphanet journal of rare diseases 2026; (21(1)).