TITLE:
Primary Immune Deficiencies (PID): Diagnosis Challenges
AUTHORS:
Indou Deme/ly, Awa Kane, Mame Sokhna Gueye, Ibrahima Diop, Mame Tene Ndiaye, Abou Ba, Idrissa Demba Ba, Babacar Niang, Aliou Thiongane, Yaay Joor Dieng, Yaye Fatou Mbodj/Diop, Ouafae Achnin, Papa Moctar Faye, Amadou Lamine Fall, Ibrahima Diagne, Tandakha Ndiaye Dièye, Ousmane Ndiaye
KEYWORDS:
Primary Immune Deficiencies, Hypo-Gammaglobulinemia, Infants
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.11 No.3,
August
10,
2021
ABSTRACT: Background: Primary Immune Deficiencies (PID) are rare,
under-determined diseases particularly in sub-Saharan Africa. The
diagnosis is often suspected with uncommon clinical signs. Infections are the
main diagnostic circumstances in infants. Confirmation is often difficult
because some additional examinations are unavailable in many of our countries. Aim: Our aim was to share the challenge of diagnosis and treatment in PID. Case
Presentation: It is about two infants, a boy and a girl, with early several
infections. Both of them presented a hypo-gammaglobulinemia and to the boy, the
immuno-phenotyping lymphocyte showed a decreased level of lymphocytes CD19. We are looking for
genetic confirmation but it is not easy. The treatment of these infants requires a substitution for life
of immunoglobulin which is unavailable in our
countries. Conclusion: PID are suspected with atypical clinical signs.
Confirmation genetic diagnosis is difficult in low income countries. To improve
the follow up, we need to strengthen clinical-biological collaboration.