Difference Between Skeletal Smooth and Cardiac Muscles
ALACI22 Short Oral Andres Hernandez-Uribe.pptx
1. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
AS A DEBUT EVENT IN A APDS1 PATIENT.
REPORT OF A CASE.
Presenting author: Andres Hernandez-Uribe
Co-authors: Javier Perez-Rojas, Pierre Trejo-Huaman,
Rosario Garcia-Guzman.
Affiliations: Clinical Immunology and Allergy Service,
Guillermo Almenara Irigoyen National Hospital.
2. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
Activated phosphoinositol 3 kinase (PI3K) δ
syndrome is a recent immunodeficiency
associated with a gain of function of the
p110δ catalytic subunit of the PI3K,
encoded in the PIK3CD gene. This phenotype
usually presents itself with
lymphoprolipheration (mostly with
splenomegaly), autoimmunity, CMV and/or
EBV viremia and B cells lymphopenia
3. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
We aim to bring awareness to this novel
PID, with heterogenous and wide spectrum
of presentation, even being able to mimic
other syndromes in an early stage.
4. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
We report the case of a patient with an initial clinical
presentation showing signs of a hemophagocytic
lymphohistiocytosis, even receiving full treatment and
achieving remission, only to evolve later to a fully
fledged variable immune deficiency syndrome, along
with a massive splenomegaly. The initial gene panel
reported a VUS in the PIK3CD gene (E1025G), which
later, when the signs and symptoms presented
themselves, confirmed the diagnosis. The immune
assessment revealed presence of autoimmunity
(positive direct Coombs test, low titers of IgG), with
persistent cytopenias, and a CMV viremia
5. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
6. ALACI22 - 13th Latin American and Caribbean Immunology and 7th Cuban Immunology Society Congresses
This report suggests that variants presenting
sufficient genomic evidence of alteration must be
considered, even in the absence of phenotype, and a
close follow up with suspected APDS1 patients must be
done, in order to accurately and promptly identify the
disease and propose an individualized treatment, in
order to prevent long lasting sequalae. This presents
as evidence that the APDS1 is a PIDD still in
research, and there’s a myriad of phenotypes to be
typified.
We would like to acknowledge the cooperative work between all
clinical services involved in the diagnosis and treatment of this
patient in our Hospital. We also want to thank the ever standing
support of the JMF, who has collaborated through it’s support to
the diagnosis of this and many others patients treated in our
institution. For it we are forever grateful.