Clinical and Serological Profile of Multiple Autoimmune Syndrome with Digeorge Syndrome Phenotype: Case Report and Literature Review

César Gamarra Ayarza^{1, 2,} , César Galvez López^{3, 4}, José Castro-Zevallos^{1, 2}, Manuel Silva Zumaran^{1, 2} and Ramón Flores Valdeiglesias^{1, 2}

¹Dos de Mayo National Hospital, Lima, Peru

²Internal Medicine Physician

³Faculty of Medicine, Norbert Wiener University, Lima, Peru

⁴Medical Student

Cite this paper:
César Gamarra Ayarza, César Galvez López, José Castro-Zevallos, Manuel Silva Zumaran and Ramón Flores Valdeiglesias. Clinical and Serological Profile of Multiple Autoimmune Syndrome with Digeorge Syndrome Phenotype: Case Report and Literature Review. American Journal of Medical Case Reports. 2026; 14(2):28-33. doi: 10.12691/ajmcr-14-2-1

Abstract

Multiple autoimmune syndrome (MAS) is a form of polyautoimmunity that encompasses three or more autoimmune diseases with well-defined diagnostic criteria in the same individual, reflecting a shared genetic susceptibility and overlapping immunopathogenic mechanisms (autoimmune tautology) and alters the clinical and serological manifestations, as well as the prognosis of the diseases involved. Its association with chromosomal abnormalities such as DiGeorge syndrome (22q11.2 deletion syndrome) is uncommon. We present the case of a young woman with MAS which includes systemic lupus erythematosus, Sjögren's syndrome, and limited cutaneous systemic sclerosis with a DiGeorge syndrome phenotype (facial dysmorphism, mild cognitive impairment, dysthymia, and a history of cheiloplasty and palatoplasty for incomplete cleft palate). Her karyotype was normal, and her FISH test was negative, which did not rule out DiGeorge syndrome. It presents with severe lupus nephritis, pericarditis, pancytopenia and febrile neutropenia, with a poor clinical course. Its clinical and immunological characteristics and management are described, and a review of the medical literature is presented.

Keywords:
Multiple autoimmune syndrome (MAS) systemic lupus erythematosus (SLE) systemic sclerosis Sjögren's syndrome DiGeorge phenotype

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