Research & Literature

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ, Goodship JA, Wright C, et al.

American journal of medical genetics. Part A 2006; (140(11)):1131-5 doi:10.1002/ajmg.a.31275.

Care coordination over time in medical homes for children with special health care needs.

Van Cleave J, Boudreau AA, McAllister J, et al.

Pediatrics 2015; (135(6)):1018-26 doi:10.1542/peds.2014-1067.

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

Guo C, Nakazawa Y, Woodbine L, et al.

The Journal of allergy and clinical immunology 2015; (136(4)):1007-17.

Measuring head circumference: Update on infant microcephaly.

Harris SR

Canadian family physician Medecin de famille canadien 2015; (61(8)):680-4.

Pediatric Care Coordination: Lessons Learned and Future Priorities.

Cady RG, Looman WS, Lindeke LL, et al.

Online journal of issues in nursing 2015; (20(3)):3.

X-linked Agammaglobulinemia.

Suri D, Rawat A, Singh S

Indian journal of pediatrics 2016; (83(4)):331-7 doi:10.1007/s12098-015-2024-8.

Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease.

Collins C

Applied & translational genomics 2016; (8()):42-4 doi:10.1016/j.atg.2016.01.002.

Cellular and humoral influenza-specific immune response upon vaccination in patients with common variable immunodeficiency and unclassified antibody deficiency.

Hanitsch LG, Löbel M, Mieves JF, et al.

Vaccine 2016; (34(21)):2417-2423 doi:10.1016/j.vaccine.2016.03.091.

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Felgentreff K, Baxi SN, Lee YN, et al.

Journal of clinical immunology 2016; (36(4)):341-53 doi:10.1007/s10875-016-0266-5.

Physiological Changes and Clinical Implications of Syndromic Craniosynostosis.

Sakamoto H, Matsusaka Y, Kunihiro N, Imai K

Journal of Korean Neurosurgical Society 2016; (59(3)):204-13 doi:10.3340/jkns.2016.59.3.204.

Transient hypogammaglobulinemia and severe atopic dermatitis: Open-label treatment with immunoglobulin in a case series.

Breslin ME, Lin JH, Roberts R, et al.

Allergy & rhinology (Providence, R.I.) 2016; (7(2)):69-73 doi:10.2500/ar.2016.7.0164.

Lung Disease in Primary Antibody Deficiencies.

Schussler E, Beasley MB, Maglione PJ

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1039-1052 doi:10.1016/j.jaip.2016.08.005.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

Secondary antibody deficiency - causes and approach to diagnosis.

Srivastava S, Wood P

Clinical medicine (London, England) 2016; (16(6)):571-576 doi:10.7861/clinmedicine.16-6-571.

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Kariminejad A, Ajeawung NF, Bozorgmehr B, et al.

Journal of human genetics 2017; (62(4)):465-471 doi:10.1038/jhg.2016.151.

Evidence-Based Medicine: Cleft Palate.

Woo AS

Plastic and reconstructive surgery 2017; (139(1)):191e-203e doi:10.1097/PRS.0000000000002854.

Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children.

Suri D, Bhattad S, Sharma A, et al.

Journal of clinical immunology 2017; (37(3)):311-318 doi:10.1007/s10875-017-0379-5.

Neurodevelopmental Outcomes in 22 Children With Microcephaly of Different Etiologies.

Gordon-Lipkin E, Gentner MB, German R, Leppert ML

Journal of child neurology 2017; (32(9)):804-809 doi:10.1177/0883073817707301.

Specific Antibody Deficiency: Controversies in Diagnosis and Management.

Perez E, Bonilla FA, Orange JS, Ballow M

Frontiers in immunology 2017; (8()):586 doi:10.3389/fimmu.2017.00586.

Congenital nasal obstruction in infants: A retrospective study and literature review.

Patel VA, Carr MM

International journal of pediatric otorhinolaryngology 2017; (99()):78-84 doi:10.1016/j.ijporl.2017.05.023.

Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.

Silva P, Justicia A, Regueiro A, et al.

Genes and immunity 2017; (18(3)):197-199 doi:10.1038/gene.2017.14.

XLF/Cernunnos: An important but puzzling participant in the nonhomologous end joining DNA repair pathway.

Menon V, Povirk LF

DNA repair 2017; (58()):29-37 doi:10.1016/j.dnarep.2017.08.003.

Influenza Vaccination in Patients with Common Variable Immunodeficiency (CVID).

Mieves JF, Wittke K, Freitag H, et al.

Current allergy and asthma reports 2017; (17(11)):78 doi:10.1007/s11882-017-0749-3.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Wright CF, McRae JF, Clayton S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(10)):1216-1223 doi:10.1038/gim.2017.246.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, et al.

European journal of human genetics : EJHG 2018; (26(5)):740-744 doi:10.1038/s41431-018-0114-6.

Individualized immunoglobulin treatment in pediatric patients with primary humoral immunodeficiency disease.

Patel NC

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018; (29(6)):583-588 doi:10.1111/pai.12923.

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

Abolhassani H, Aghamohammadi A, Fang M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(1)):243-251 doi:10.1038/s41436-018-0012-x.

Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.

Buchbinder D, Smith MJ, Kawahara M, et al.

Blood advances 2018; (2(15)):1828-1832 doi:10.1182/bloodadvances.2018016113.

Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections.

Langereis JD, van der Flier M, de Jonge MI

Frontiers in immunology 2018; (9()):1925 doi:10.3389/fimmu.2018.01925.

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Abolhassani H, Kiaee F, Tavakol M, et al.

Journal of clinical immunology 2018; (38(7)):816-832 doi:10.1007/s10875-018-0556-1.

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Staines Boone AT, Chinn IK, Alaez-Versón C, et al.

Frontiers in pediatrics 2018; (6()):426 doi:10.3389/fped.2018.00426.

Nonsyndromic Craniosynostosis.

Dempsey RF, Monson LA, Maricevich RS, et al.

Clinics in plastic surgery 2019; (46(2)):123-139 doi:10.1016/j.cps.2018.11.001.

Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).

Sogkas G, Dubrowinskaja N, Bergmann AK, et al.

Diseases (Basel, Switzerland) 2019; (7(2)) doi:10.3390/diseases7020034.

Viral infection in primary antibody deficiency syndromes.

Jones TPW, Buckland M, Breuer J, Lowe DM

Reviews in medical virology 2019; (29(4)):e2049 doi:10.1002/rmv.2049.

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care.

Moreddu E, Rizzi M, Adil E, et al.

International journal of pediatric otorhinolaryngology 2019; (123()):151-155 doi:10.1016/j.ijporl.2019.05.010.

Structural basis of specific DNA binding by the transcription factor ZBTB24.

Ren R, Hardikar S, Horton JR, et al.

Nucleic acids research 2019; (47(16)):8388-8398 doi:10.1093/nar/gkz557.

Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis.

Zhang JY, Zhu XW, Ding X, et al.

International journal of ophthalmology 2019; (12(7)):1187-1193 doi:10.18240/ijo.2019.07.21.

An update on X-Linked agammaglobulinaemia: clinical manifestations and management.

Shillitoe BMJ, Gennery AR

Current opinion in allergy and clinical immunology 2019; (19(6)):571-577 doi:10.1097/ACI.0000000000000584.

Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.

Fekrvand S, Yazdani R, Olbrich P, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2020; (31(4)):405-417 doi:10.1111/pai.13228.

Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Pashangzadeh S, Yazdani R, Nazari F, et al.

Endocrine, metabolic & immune disorders drug targets 2020; (20(9)):1434-1447 doi:10.2174/1871530320666200508114349.

Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.

Slatter MA, Gennery AR

Current allergy and asthma reports 2020; (20(10)):57 doi:10.1007/s11882-020-00955-z.

Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Edwards ESJ, Bosco JJ, Ojaimi S, et al.

Cellular & molecular immunology 2021; (18(3)):588-603 doi:10.1038/s41423-020-00520-8.

Optimal Timing of Palatoplasty in Infants With Comorbidities.

Kalmar CL, Patel VA, Zapatero ZD, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021; (58(8)):937-942 doi:10.1177/1055665620976249.

X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.

Yıldırım İ, Topyıldız E, Bilgin RBG, et al.

American journal of clinical and experimental immunology 2021; (10(1)):37-43.

Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia.

Paccoud O, Mahlaoui N, Moshous D, et al.

Journal of clinical immunology 2021; (41(6)):1266-1271 doi:10.1007/s10875-021-01043-1.

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.

Ürel-Demir G, Aydın B, Karaosmanoğlu B, et al.

Molecular syndromology 2021; (12(2)):106-111 doi:10.1159/000513078.

A Qualitative Study of Family Caregiver Perceptions of High-Quality Care at a Pediatric Complex Care Center.

Yu JA, Cook S, Imming C, et al.

Academic pediatrics 2022; (22(1)):107-115 doi:10.1016/j.acap.2021.05.012.

Microcephaly, an etiopathogenic vision.

Becerra-Solano LE, Mateos-Sánchez L, López-Muñoz E

Pediatrics and neonatology 2021; (62(4)):354-360 doi:10.1016/j.pedneo.2021.05.008.

Vaccination in PADs.

Milito C, Soccodato V, Collalti G, et al.

Vaccines 2021; (9(6)) doi:10.3390/vaccines9060626.

Invasive Haemophilus influenzae type b infection in a patient with transient hypogammaglobulinemia of infancy.

Otaki Y, Ogawa E, Higuchi T, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2021; (27(12)):1756-1759 doi:10.1016/j.jiac.2021.07.023.

Craniosynostosis Surgery for Increased Intracranial Pressure.

Still MEH, Chidarala S, Alvarado A, et al.

The Journal of craniofacial surgery 2022; (33(5)):1454-1457 doi:10.1097/SCS.0000000000008357.

Morbidity Associated With Anterior Versus Posterior Cranial Vault Expansion for Early Treatment of Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.

Richardson IJ, Wager LE, Recker MJ, et al.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2022; (80(4)):651-661 doi:10.1016/j.joms.2021.10.022.

The Goldilocks problem: Healthcare delivery models for children with medical complexity.

Galligan MM, Hogan AK

Current problems in pediatric and adolescent health care 2021; (51(12)):101127 doi:10.1016/j.cppeds.2021.101127.

Optimizing the multidisciplinary team to enhance care coordination across the continuum for children with medical complexity.

Leach KF, Stack NJ, Jones S

Current problems in pediatric and adolescent health care 2021; (51(12)):101128 doi:10.1016/j.cppeds.2021.101128.

Clinical and laboratory observation on immunoglobulin replacement therapy switching from an intravenous to a subcutaneous route in a Malaysian X-linked agammaglobulinemia patient.

Adli A, Wahab AA, Abdul Latiff AH, et al.

The Medical journal of Malaysia 2022; (77(1)):95-97.

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases.

Epps C, Bax R, Croker A, et al.

Therapeutic innovation & regulatory science 2022; (56(6)):964-975 doi:10.1007/s43441-022-00409-w.

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Castro ACE, Maia R, Batalha S, et al.

Frontiers in immunology 2022; (13()):869728 doi:10.3389/fimmu.2022.869728.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Schobers G, Schieving JH, Yntema HG, et al.

Genome medicine 2022; (14(1)):66 doi:10.1186/s13073-022-01069-z.

Risk Factors of Pneumonia in Primary Antibody Deficiency Patients Receiving Immunoglobulin Therapy: Data from the US Immunodeficiency Network (USIDNET).

Syed MN, Kutac C, Miller JM, et al.

Journal of clinical immunology 2022; (42(7)):1545-1552 doi:10.1007/s10875-022-01317-2.

Meningoencephalitis in primary antibody deficiency: Our experience from northwest India.

Jindal AK, Chaudhary H, Tyagi R, et al.

Journal of neuroimmunology 2022; (371()):577952 doi:10.1016/j.jneuroim.2022.577952.

Implementation and Evaluation of a Wraparound Virtual Care Program for Children with Medical Complexity.

Curfman AL, Haycraft M, McSwain SD, et al.

Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2023; (29(6)):947-953 doi:10.1089/tmj.2022.0344.

International Undiagnosed Diseases Programs (UDPs): components and outcomes.

Curic E, Ewans L, Pysar R, et al.

Orphanet journal of rare diseases 2023; (18(1)):348 doi:10.1186/s13023-023-02966-1.

Primary Cleft Palate Repair.

Long BD, Petersson RS

Facial plastic surgery clinics of North America 2024; (32(1)):55-62 doi:10.1016/j.fsc.2023.07.001.

Updates in Cleft Care.

Parham MJ, Simpson AE, Moreno TA, Maricevich RS

Seminars in plastic surgery 2023; (37(4)):240-252 doi:10.1055/s-0043-1776733.

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Sil A, Basu S, Joshi V, et al.

Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

Tellerday J, Black J, Schuessler DC, et al.

American journal of medical genetics. Part A 2024; (194(10)):e63722 doi:10.1002/ajmg.a.63722.

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Yu L, Zhang Y, Li W, et al.

Journal of clinical immunology 2024; (44(6)):137 doi:10.1007/s10875-024-01740-7.

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.

Syed Iqbaluddin J, Cipe F, Al-Hammadi S, et al.

Cureus 2024; (16(6)):e62983 doi:10.7759/cureus.62983.

Craniosynostosis: Current Evaluation and Management.

Sullivan LE, Li R, Tong VS, et al.

Annals of plastic surgery 2024; (93(6S Suppl 3)):S144-S149 doi:10.1097/SAP.0000000000004131.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S, Steyaert W, de Boer E, et al.

Nature medicine 2025; (31(2)):478-489 doi:10.1038/s41591-024-03420-w.

Endoscopic Strip Craniectomy for the Treatment of Single Suture Craniosynostosis.

Holste K, Lynes J, Magge SN

Advances and technical standards in neurosurgery 2025; (55()):209-229 doi:10.1007/978-3-031-90762-3_12.

Orofacial myofunctional and anthropometric characteristics of children with and without microcephaly: a case-control study.

Medeiros AMC, Nobre GRD, Rezende GDES, et al.

Journal of applied oral science : revista FOB 2025; (33()):e20240473 doi:10.1590/1678-7757-2024-0473.

Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.

Dehghanzad R, Eshaghkhani Y, Saberi M, et al.

European journal of medical genetics 2025; (77()):105036 doi:10.1016/j.ejmg.2025.105036.

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.

Blom M, Duintjer AJ, Jamee M, et al.

Journal of clinical immunology 2025; (45(1)):125.

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study.

Esmaeilzadeh H, Esmaeilbeig M, Askarisarvestani A, et al.

BMC immunology 2025; (26(1)):73 doi:10.1186/s12865-025-00758-9.

Current status of BCG and OPV vaccination in children with primary immunodeficiency in Chongqing, China.

Liu Y, Zhang Y, Ning Y, et al.

Medicine 2025; (104(40)):e44935 doi:10.1097/MD.0000000000044935.

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.

Abdelfattah AS, Saleh MA

Molecular cytogenetics 2025; (19(1)):1 doi:10.1186/s13039-025-00742-3.

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report.

Aydin E, Bulut AS, Yildiz B, et al.

Journal of child neurology 2026; 8830738261422860 doi:10.1177/08830738261422860.

Hypogammaglobulinemia during infancy and atopic dermatitis.

Griffin S, Fishbein J, Wetzel T, et al.

Allergy and asthma proceedings 2026; (47(2)):133-139 doi:10.2500/aap.2026.47.250094.

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome.

Elabjer BK, Miletić D, Bjeloš M, et al.

Children (Basel, Switzerland) 2026; (13(3)) doi:10.3390/children13030377.

Purulent meningitis in X-linked agammaglobulinemia: one case report.

Ba A, Wang L, Ren R, et al.

Frontiers in immunology 2026; (17()):1704590 doi:10.3389/fimmu.2026.1704590.

Surgical Management of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES): A Comprehensive Review.

Wojciechowska J, Wojarska M, Drobashko A, et al.

Ophthalmology and therapy 2026; (15(6)):1879-1906 doi:10.1007/s40123-026-01370-9.

Revisiting X-linked agammaglobulinemia.

Kanegane H, Tanita K, Nishimura M, et al.

Journal of human immunity 2025; (1(1)):e20250020 doi:10.70962/jhi.20250020.

Hypogammaglobulinemia in Children with Atopic Dermatitis.

Karali Z, Karali Y, Senocak Z, Kilic SS

Children (Basel, Switzerland) 2026; (13(5)) doi:10.3390/children13050696.

Artificial Intelligence in Rare Diseases: Workflow-Integrated Precision Kidney Care.

Thongprayoon C, Pesce F, Cheungpasitporn W

Clinics and practice 2026; (16(6)) doi:10.3390/clinpract16060101.

Syndromic craniosynostosis: current concepts in intracranial hypertension, cranial base pathology, and surgical management.

Lim SY

Archives of craniofacial surgery 2026; (27(3)):113-119 doi:10.7181/acfs.2026.0080.

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project.

Yigit A, Pekerbas M, Salman B, et al.

European journal of human genetics : EJHG 2026; (34(10)):1473-1485 doi:10.1038/s41431-026-02177-9.

Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene.

Liu J, Wu Y, Xu S, et al.

Intractable & rare diseases research 2026; (15(3)):260-267 doi:10.5582/irdr.2026.01029.

DNA methylation maintenance at heterochromatin.

Wassing IE, Funabiki H

DNA repair 2026; (167()):103965 doi:10.1016/j.dnarep.2026.103965.