Vol. 69 No. 4 (2022), Case clinical reports
Vol. 69 No. 4 (2022)

Hyper-IgM Syndrome with Early Liver Involvement

Case clinical reports
Published 2023-04-19
Kareli Guadalupe Coronado Hernández
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Hector Hugo Campos Tellez
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Ana Paola Macías Robles
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Rosa Maria Cortes Grimaldo
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Carlos David Estrada Garcia
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Britza Barrios Diaz
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Adriana Ramirez Nepomuceno
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Marlen Barreto Alcala
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
David Esparza Amaya
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Hilda Lilian Carvajal Alonso
Unidad Médica de Alta Especialidad, Hospital de Pediatría, servicio de Alergia e Inmunología Clínica Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco
Laura Berron Ruiz
Instituto Nacional de Pediatría, Ciudad de México.
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Keywords

Hyper IgM syndrome
liver damage
innate error of immunity
deficiency of CD40L

Abstract

Introduction:
Hyper-IgM syndrome is an inborn error of immunity characterized by a defect in immunoglobulin isotype switching, leading to decreased levels of IgG, IgA, and IgE, with normal or elevated IgM concentrations. It predisposes individuals to infectious processes in the respiratory and gastrointestinal systems, as well as autoimmune diseases and neoplasms.

Case Report:
A 5-year-7-month-old male pediatric patient with a history of two episodes of pneumonia (one severe) and chronic diarrhea since the age of two. He presented with persistent moderate neutropenia, decreased IgG levels, and elevated IgM. Flow cytometry confirmed the absence of CD40L. During clinical progression, early liver involvement was observed.

Conclusion:
Hyper-IgM syndrome predisposes patients to liver damage, making comprehensive evaluation and early diagnosis essential. Active anti-infectious treatment and control of the inflammatory response are key factors in managing liver damage in these patients.

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References

Yazdani R, Fekrvand S, Shahkarami S, et al. The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin Immunol 2019; 198: 19-30. doi: 10.1016/j.clim.2018.11.007

Freyer DR, Gowans LK, Warzynski M, et al. Flow cytometric diagnosis of X-linked hyper-IgM syndrome: application of an accurate and convenient procedure. J Pediatr Hematol Oncol 2004; 26 (6): 363-70. doi: 10.1097/00043426-200406000-00006

França TT, Barreiros LA, Al-Ramadi BK, et al. CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives. Expert Rev Clin Immunol 2019; 15 (5): 529-540. doi: 10.1080/1744666X.2019.1573674

de la Morena MT. Clinical Phenotypes of Hyper-IgM Syndromes. J Allergy Clin Immunol Pract 2016; 4 (6): 1023-1036. doi: 10.1016/j.jaip.2016.09.013

Fuleihan RL. The hyper IgM syndrome. Curr Allergy Asthma Rep 2001; 1 (5): 445-50. doi: 10.1007/s11882-001-0030-6

Barbouche MR, Chen Q, Carbone M, et al. Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. Cell Mol Immunol 2018; 15 (6): 610-617. doi: 10.1038/cmi.2017.140

Bhushan A, Covey LR. CD40:CD40L interactions in X-linked and nonX-linked hyper-IgM syndromes. Immunol Res 2001; 24: 311-324. doi: 10.1385/IR:24:3:311

Wang TJ, Wu LF, Chen J, et al. X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG gene. Immunol Res 2019; 67 (4-5): 454-459. doi: 10.1007/s12026-019-09098-4

Abinun M, Albert M, Cohen S, Buckland M, Bustamante J, Cant A, et al. ESID Registry – Working Definitions for Clinical Diagnosis of PID. 2019. https://esid.org/Working-Parties/Registry-Working-Party/Diagnosis-criteria.

Rodríguez C, Carrión F, Marinovic MA, et al. Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: caso clínico [X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case]. Rev Med Chil 2003; 131 (3): 303-8.

Rodrigues F, Davies E, Harrison P, McLauchlin J, Karani J, Portmann B, et al. Liver disease in children with primary immunodeficiencies. J Pediatr 2004; 145: 333-9.

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