BCG Vaccine ; adverse effects ; Humans ; Infant ; Male ; Mycobacterium bovis ; Severe Combined Immunodeficiency ; complications ; Tuberculosis ; complications

Fingers ; Hand Dermatoses ; etiology ; Humans ; Infant ; Male ; Severe Combined Immunodeficiency ; complications ; Tuberculosis, Osteoarticular ; etiology

OBJECTIVETo enhance the knowledge of adenosine deaminase (ADA) deficiency associated severe combined immunodeficiency (SCID) with disseminated varicella infection after vaccination.

METHODSWith case report and review of literature, the background knowledge, clinical and laboratory findings, diagnosis and treatment of ADA-deficient SCID were discussed.

RESULTSThe patient had the condition with failure to thrive. The main complaint was more than three weeks of fever and rash. He had received the live attenuated Oka strain varicella vaccination approximately two weeks before the onset of rash. Varicella infection was confirmed with direct immunofluorescence assay. The patient had mild leukopenia, with 3% lymphocytes. The initial immunologic workup included decreased IgG, IgM and IgA, abnormal expanded lymphocyte enumeration which confirmed the reduction of CD3, CD4, CD8, CD19 and CD56. Enzyme testing for ADA activity showed remarkably low level in the hemolysate, as well as increased levels of deoxyadenosine nucleotides.

CONCLUSIONADA-deficient SCID has some characteristic clinical and laboratory findings. Management options for ADA-deficient SCID include hematopoietic stem cell transplantation, enzyme replacement therapy and gene therapy. Immunodeficiency should be considered in children with severe failure-to-thrive. Live vaccine administration should be avoided in patients with immunodeficiency.

Adenosine Deaminase ; deficiency ; African Americans ; Chickenpox ; complications ; etiology ; Humans ; Infant ; Male ; Severe Combined Immunodeficiency ; complications ; Vaccination ; adverse effects

In severe combined immunodeficiency disease, both T and B cell functions are diminished or absent and affected usually succumb to overwhelming infection within the first year of life. We are reporting a case with severe combined immunodeficiency, Swiss type who suffered from interstitial pneumonia which cleared by treatment with recombinant human interferon gamma. In this case, we don't know the exact mechanism which caused the clearing of the interstitial pneumonia. However, we can speculate that antiviral action and activated macrophages or monocytes, through the recombinant human interferon gamma, might exert its effect on interstitial pneumonia. Though we should extend its application to more cases of SCID with interstitial pneumonia, this report may suggests a new application for interferon-gamma as a potential corrective and therapeutic agent for interstitial pneumonia in congenital immunodeficiency diseases.
Case Report ; Human ; Infant ; Interferon-gamma, Recombinant/*therapeutic use ; Male ; Pulmonary Fibrosis/*therapy ; Severe Combined Immunodeficiency/*complications

OBJECTIVEInterleukin-12 receptor beta1 (IL-12 Rbeta1) deficiency is a rare primary immunodeficiency (PID) characterized by selective susceptibility to weakly virulent organisms, including Mycobacterium bovis, BCG, non-tuberculous environmental mycobacteria and non-typhoidal salmonellosis. The present study was conducted to identify the mutation type and to analyze clinical phenotype.

METHODSBased on the typical clinical manifestations and immunologic tests in this case, a varieties of PIDs were excluded and IL-12Rbeta1 deficiency was suspected. IL-12Rbeta1 chain expressed on Epstein-Barr virus-transformed lymphoblastoid B cell lines were detected by flow cytometric assay. The IL-12Rbeta1 gene sequences of the patient and her parents were analyzed by PCR-directed sequencing. The IL-12Rbeta1 gene sequences of the patient's younger brother also had been analyzed prenatally and after birth.

RESULTSAfter inoculating BCG, the patient suffered from multiple BCG infectious lymphadenitis. There was no detectable IL-12Rbeta1 on the Epstein-Barr virus-transformed lymphoblastoid B cell lines from the patient, while only mild expression on the cell line from her mother. Sequencing analysis by using sense and antisense primers separately, a novel IL-12Rbeta1 gene mutation was found in the patient which was homozygous single nucleotide substitution, a nonsense mutation with nucleotide substitution of C to T at position 853 (853C-->T) in exon 9 leading the glutamate at position 285 to the stop codon mutation (Q285X). The parents were carriers of the mutated IL-12Rbeta1 gene. But her younger brother has normal IL-12Rbeta1 gene.

CONCLUSIONThe novel IL-12Rbeta1 gene mutation is responsible for BCG infection in this case and genetic analysis is useful in carrier detection and prenatal diagnosis is feasible when the mother had a baby with identified IL-12Rbeta1 gene mutation before.

BCG Vaccine ; adverse effects ; Base Sequence ; Exons ; Female ; Humans ; Infant ; Molecular Sequence Data ; Mutation ; Mycobacterium bovis ; Phenotype ; Receptors, Interleukin-12 ; deficiency ; genetics ; Severe Combined Immunodeficiency ; complications ; genetics ; Tuberculosis ; complications