biostudies-literatureAlsaidalani AAInstituto de Salud Carlos IIIEuropean Society for ImmunodeficienciesDivision of Microbiology and Infectious Diseases, National Institute of Allergy and Infectious DiseasesNIAID NIH HHSComunidad de MadridNCI NIH HHSFundación para la Investigación del Hospital Universitari La Fe13https://www.ebi.ac.uk/biostudies/studies/S-EPMC10966939biostudies-literatureUnknown44(1)Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.Journal of clinical immunologyInherited Human BCL10 Deficiencies.PMC10966939#1R01CA269217-01A1PI22/00790R01 CA269217PI17/00543R21AI1714661R01AI168210-01A1PEJD2019-PRE/BMD-16556R01 AI168210Ayudas Luis _Alvarez 2022 FIBHULPESID Bridge FellowshipR21 AI171466Bukhari ELopez-Lera ALopez-Collazo EMartinez-Barricarte RSanchez-Ramon SCorvillo FVan Den Rym Ade Andres AGarcia-Solis BAlsaidalani AAPerez de Diego RfalseInherited Human BCL10 Deficiencies.Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.2023-01-01T00:00:00Z2023 Dec2025-04-04T21:45:31.116Z2025-04-04T21:45:31.116ZS-EPMC109669393812962310.1007/s10875-023-01619-z