Immunology and Genetics Journal
Year:2019 | Volume:2 | Issue:1|Papers Count:4

Primary immunodeficiency (PID) is a group of more than 400 distinct genetic disorders affecting both children and adults. As signs and symptoms of PID are usually heterogeneous and unspecific, diagnosis and follow-up of these patients can be challenging based on the available human resources and laboratory facilities. In order to reach a distinct national protocol and due to little evidence to guide appropriate or universal guidelines to improve the current status of management of the disease, the Iranian PID network designed a consensus appropriate for regional resources. This review summarizes this PID guideline based on the importance of different clinical complications and the level of medical authority visiting those at the first line. Moreover, for each complication, appropriate interventions for improving approach are mentioned.

Background/objectives: Hereditary Angioedema (HAE) is a rare, autosomal dominant genetic disease, characterized clinically by episodic non-pruritic swelling of face, limbs and tissue just beneath the skin. Laryngeal edema is the main cause of death in these patients. Sometimes the disease may affect the family members of the index case. Therefore, early recognition of disease in family members of the patients may prevent potential consequence of mortality. Method: The Ten patients were entered in the study. Laboratory finding including complement component were evaluated by nephelometry and CH50 assay. Result: A family with a large number of patients with this disease. A 33-year-old man was presented with complaints of periodic abdominal pain, episodic swelling of hands and feet, and respiratory distress. Similar symptoms were reported by his siblings and his mother. Laboratory studies illustrated low C4, CH50 and C1q inhibitor levels consistent with HAE. Pedigree analysis indicated a large number of affected people in this family. MLPA was performed to remove or reproduce the SERPING1 gene with probemix P243-A3 of MRC-Holland revealing a heterozygous substitution in exon 3 gene (c. 467C>A). Due to the wide variety of disease expression, clinical characteristics and pedigree analysis were appropriate to recognize the HAE. Conclusion: Regarding that hereditary angioderma is a life-threatening, laboratory finding, family history and genetic background evaluation can be considered as an effective ways to improve patient’ s condition.

Background/objectives: Ataxia-telangiectasia (AT) is a rare inherited disorder caused by mutations in the ATM (Ataxia Telangiectasia Mutated) gene. Antibody response to diphtheria and tetanus toxoid vaccines may reveal indirect information about both cellular and humoral arms of the immune system in these patients. This study, therefore, set out to assess the specific antibody responses against tetanus and diphtheria vaccination among AT patients. Methods: Thirty-eight AT patients were entered the study and an appropriate questionnaire was completed for all of them. Laboratory findings including alpha fetoprotein, lymphocyte subsets, serum immunoglobulin levels of IgG, IgG subsets, IgA, IgM, IgE and antibody response against diphtheria and tetanus toxoids were measured. Results: Thirty-eight A-T patients were enrolled in this study. Based on the anti-tetanus and anti-diphtheria antibody production, 24 and 14 patients were categorized in responder (R) and non-responder (NR) groups, respectively. Respiratory tract infection was the most common infectious complication reported more frequently in the R comparing to NR group. Within the non-infectious manifestations, after cerebellar ataxia, ocular telangiectasia (52. 6%) and FTT (26. 3%) were the most frequent. 34. 8% of individuals in R group but none of the NR patients had normal serum immunoglobulin profile (P=0. 015). Contrarily, HIGM phenotype was found more frequent in NR group comparing to R group (50% vs. 17. 4%, p= 0. 063). Conclusions: In accordance with the previous studies, we observed sufficient antibody response to diphtheria and tetanus vaccines in most of the AT patients.

Enteropathy is one of the rare manifestations of common variable immunodeficiency (CVID) as a predominant antibody deficiency. Proper diagnosis of this phenotype in CVID cases is difficult and may result in inaccurate assessment or incorrect management. Further, this misdiagnosis is more probable when noninfectious diarrhea is the only manifestation of CVID. We present herein a case with such an abstruse condition who was misdiagnosed as a celiac disease leading to delayed diagnosis of her primary immunodeficiency disease. We also offer a review on enteropathy manifestation in CVID patients.