Alonso BCD, Castañeda ÁVI, Castrejón VMI, Vargas CME

Language: Spanish
References: 5
Page: 80-82
PDF size: 172.43 Kb.

ABSTRACT

Introduction: the common variable immunodeficiency is classified in group III of IX, which includes immunodeficiencies with a predominance of antibody deficiency. It is known that the mutation in the TNFSF13B gene, responsible for encoding the TACI protein, causes a variable clinical expression that accompanies the disease. Case report: a 25-year-old female patient, who started her condition from birth, was studied for chronic diarrhea without a definite etiology; the symptomatology was worsened by presenting decreased stools in consistency. The common variable immunodeficiency was made, and replacement therapy with intravenous immunoglobulin G was initiated every four weeks with significant clinical improvement. Next-generation DNA sequencing (NGS) of complete DNA exome was realized with a variant identification in TNFRSF13B, in exon 3 c.310T> C; p.cys104Arg. Conclusions: the clinical presentation of the shared variable immunodeficiency is diverse; within the clinical study of a patient suspected of this disease, it is essential to consider the presence and evolution of gastrointestinal symptoms. The molecular diagnosis of innate immunity errors helps clarify the pathophysiology of this group of diseases.

REFERENCES

1. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018; 38 (1): 129-143. doi: 10.1007/s10875-017-0465-8.

2. Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018; 38 (1): 96-128. doi: 10.1007/s10875-017-0464-9.

3. Lee JJ, Ozcan E, Rauter I, Geha RS. Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency. Curr Opin Allergy Clin Immunol. 2008; 8 (6): 520-526. doi: 10.1097/ACI.0b013e3283141200.

4. Odetola O, Ananthanarayanan V. Gastrointestinal presentations of common variable immunodeficiency: hiding in plain sight. Arch Pathol Lab Med. 2019; 143 (4): 525-530. doi: 10.5858/arpa.2017-0372-RS.

5. Ezzaitouni F, Thiyfa Y, Tahiri M, Haddad F, Hliwa W, Bellabah A et al. Common variable immune deficiency lately revealed by gastrointestinal problems: about a case. Pan Afr Med J. 2017; 28 (1): 48. doi: 10.1182/blood.2019002062.