scholarly journals Novel Genetic Discoveries in Primary Immunodeficiency Disorders

2022 ◽  
Author(s):  
Margaret T. Redmond ◽  
Rebecca Scherzer ◽  
Benjamin T. Prince
Keyword(s):  
Primary Immunodeficiency ◽  
Primary Immunodeficiency Disorders

Noninfectious Granulomas

2016 ◽  
Vol 20 (3) ◽  
pp. 259-262 ◽  
Author(s):  
Ilya Shoimer ◽  
Nicola Wright ◽  
Richard M. Haber
Keyword(s):  
Immune Deficiency ◽  
Primary Immunodeficiency ◽  
Ataxia Telangiectasia ◽  
Clobetasol Propionate ◽  
Management Options ◽  
Primary Immunodeficiency Disorders ◽  
Infectious Origin ◽  
Initial Sign

Primary immunodeficiency disorders, such as ataxia-telangiectasia (A-T), may rarely be associated with cutaneous granulomas without an identifiable infection. The authors report a case of a 3-year-old boy with A-T who presented with two persistent ulcerated erythematous nodules. Histopathology was consistent with a granulomatous process secondary to A-T, without an infectious origin. Partial improvement was noted with clobetasol propionate 0.05% cream applied twice daily under occlusion. Of note, the presence of multiple noninfectious granulomas in a child may be the initial sign of an immune deficiency and should alert the astute clinician to investigate for an underlying primary immunodeficiency. Herein, the authors discuss the associations of noninfectious granulomas and primary immunodeficiency disorders and present management options for these difficult-to-treat lesions.

Noninfectious Cutaneous Granulomas in Primary Immunodeficiency Disorders

2014 ◽  
Vol 36 (10) ◽  
pp. 832-837 ◽  
Author(s):  
Arti Nanda ◽  
Waleed Al-Herz ◽  
Humoud Al-Sabah ◽  
Hejab Al-Ajmi
Keyword(s):  
Primary Immunodeficiency ◽  
Primary Immunodeficiency Disorders

scholarly journals Clinical and epidemiological characteristics of patients with suspected primary immunodeficiency disorders attending Alexandria University Children’s Hospital

2019 ◽  
Vol 6 (5) ◽  
pp. 1872
Author(s):  
Doaa A. Heiba
Keyword(s):  
Primary Immunodeficiency ◽  
Demographic Data ◽  
Positive Family History ◽  
Diagnostic Delay ◽  
Patient Registries ◽  
Primary Immunodeficiency Disorders ◽  
Children's Hospital ◽  
Egyptian Children ◽  
Children’S Hospital ◽  
Epidemiological Characteristics

Background: Current study was conducted to determine the clinical and epidemiological characteristics of patients with suspected primary immunodeficiencies (PID) seen at Alexandria University Children's Hospital.Methods: Eighty one patients with suspected PID were seen at Alexandria University Children's Hospital in one year in the period from September 2016 to October 2017. Demographic data of the patients as well as data related to their disease status were taken and evaluation sheet was developed for all patients.Results: About 61.7% of patients satisfied the criteria of PID based on WHO Scientific Committee. According to modified IUIS classification predominant antibody deficiency was the commonest (34%) followed by other well defined immunodeficiency syndromes (30%), combined immunodeficiencies (16%), phagocytic defects (14%), diseases of immune dysregulation 4% and complement deficiencies (2%). The most frequent disorder was X-linked agammagloulinemia (XLA) (22%). The mean age at diagnosis was 27.4 months. The consanguinity rate was 55.5%. A positive Family history was a strong pointer to diagnosis for PID (46.9%). The commonest clinical presentation was pneumonia (82.7%). 28.4% of patients died from infections. As observed in other patient registries, diagnostic delay remains the major cause of morbidity and mortality.Conclusions: Primary immunodeficiency disorders are not rare in Egyptian children. Creating awareness of PID should be targeted at hospital pediatricians and families with history of PID and this may reveal more cases within the community. The observed high frequency of combined T- and B-cell immunodeficiencies in this cohort made it a health issue in Egypt as in other developing countries.

scholarly journals How We Managed Primary Immunodeficiency Disorders in Pakistan – A Case Based Study

2019 ◽  
Vol 4 (1) ◽  
pp. 34-41
Author(s):  
Asifa Noor ◽  
◽  
Mehjabeen Imam ◽  
Tasneem Farzana ◽  
Saqib Ansari ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Primary Immunodeficiency Disorders ◽  
Case Based
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