Jacinta Bustamante

48PUBLICATIONS
759CO-AUTHORS
Genetic immunologyImmunogenetics (incl. genetic immunology)Infectious agentsGene and molecular therapyCardiology (incl. cardiovascular diseases)
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Publications (48)

|Jul 30, 2026
FOXP3 deep intronic variant underlying IPEX.

|Jul 16, 2026
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).

|Jul 09, 2026
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.

|Jul 01, 2026
Two novel kindreds with autosomal recessive STAT2 deficiency.

|May 29, 2026
STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.

|May 25, 2026
Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.

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Frequent Collaborators

30 joint publications

Jean-Laurent Casanova

20 joint publications

Jérémie Rosain

17 joint publications

Anne Puel

15 joint publications

Laurent Abel