Severe combined immunodeficiency (SCID) represents a group of genetically heterogeneous disorders characterized by mutations that lead to profound defects in both humoral and cellular immunity. Transplacental maternal engraftment (TME) is a frequently observed complication in SCID. While most cases of SCID with TME exhibit no substantial impact on disease progression, a subset of patients may encounter diagnostic delays or therapeutic challenges due to TME interference. Furthermore, TME may predispose these individuals to graft-versus-host disease (GVHD) prior to hematopoietic stem cell transplantation, thereby increasing diagnostic complexity and treatment risks. This review systematically examines the etiology and clinical manifestations of SCID associated with TME, analyzes its implications for disease management, and evaluates current detection methodologies. The synthesized evidence provides a theoretical foundation for future research and offers potential insights into the clinical diagnosis and management of SCID associated with TME.
Humans ; Severe Combined Immunodeficiency/diagnosis* ; Pregnancy ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Maternal-Fetal Exchange/immunology* ; Graft vs Host Disease/etiology* ; Animals ; Placenta/immunology*

OBJECTIVEOmenn syndrome is a rare autosomal recessive hereditary severe combined immunodeficiency. The purpose of this study was to understand clinical characteristics and genetic mutation type of Omenn syndrome and to improve the recognition of Omenn syndrome among pediatric clinicians.

METHODOne suspected case of severe combined immunodeficiency was found to have pneumonia repeatedly, intractable diarrhea, poor antibiotic treatment effect, lymphadenopathy, hepatosplenomegaly and erythroderma. The patient was diagnosed as having Omenn syndrome by RT-PCR, and the expression of RAG1/RAG2 and gene analysis of RAG1/RAG2 were performed.

RESULTThe classification of lymphocyte was CD3(+) cells (35.3%), CD19(+) cells (0.4%), CD16(+) cells (57.6%). After stimulation with phytohemagglutinin (PHA), lymphocyte proliferation of the child was extremely low. Genetic studies showed RAG1 homozygous deletion mutation (2302 del T). He had detectable activated T-lymphocytes with low circulating B-lymphocytes and no evidence of maternal T-cell engrafment as indicated by the short tandem repeat (STR) analysis.

CONCLUSIONOmenn syndrome is a severe combined immunodeficiency disease caused by mutations in the RAG1/RAG2 gene. The disease has been reported rarely in China. The clinical manifestations of the disease is early postnatal repeated infections and erythroderma. Mutation analysis of RAG1/RAG2 gene may help to confirm the diagnosis and may be useful in early immune reconstitution and genetic counseling.

Amino Acid Sequence ; Biomarkers ; blood ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Genotype ; Homeodomain Proteins ; genetics ; Humans ; Infant ; Lymphocytes ; immunology ; pathology ; Male ; Microsatellite Repeats ; Mutation ; Nuclear Proteins ; genetics ; Phenotype ; Receptors, Antigen, T-Cell, alpha-beta ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Severe Combined Immunodeficiency ; diagnosis ; genetics ; pathology

OBJECTIVEMore than one hundred primary immunodeficiency disorders have been discovered so far. But the incidence of these disorders in our country is still not clear, so we analyzed the clinical data of 93 children with primary immunodeficiency disorders seen in our hospital in recent 30 years to understand the occurrence of primary immunodeficiency disorders in children, to promote the clinicians to become familiar with these disorders, to improve the nationwide registry system and to establish the basis for the treatment and prevention in future.

METHODSTo analyze the constituent ratio of the 93 children with primary immunodeficiency disorders seen in our hospital from 1974 to 2003, diagnostic and classification criteria were set by taking the proposal by International Union of Immunological Societies (IUIS) PID classification committee in 2003 into account. All the data were analyzed retrospectively.

RESULTSIn the 93 children with primary immunodeficiency disorders, antibody deficiencies were the most frequent (39.8%) finding, followed by combined immunodeficiency, combined T- and B-cell disorders (22.6%), and T lymphocytic deficiencies alone (14.0%). Immunodeficiency with other major defects accounted for 12.9%, phagocytic disorders 9.7%, and complement deficiencies 1.1%. Thus, there seemed to be a tendency that the incidence increased with time. The incidence of these disorders has increased significantly as shown by 50 diagnosed cases in children with these disorders since 1996. Sixteen children died, with the highest mortality occurred with combined immunodeficiency. Seven children developed bronchiectasis. Two children suffered from persistent diarrhea while one of the two was complicated with persistent intestinal fistula. One child developed juvenile rheumatoid arthritis, another one with granulocytopenia and iridocyclitis, and the other with allergic purpura. The boys: girls ratio for all disorders was 3:1. The age of onset ranged from 10 days to 37 years of age.

CONCLUSIONSThere are vast variety of primary immunodeficiency disorders in our area and antibody deficiency is the most common abnormality. Combined immunodeficiency has early onset age and high mortality rate. With the great improvement of the diagnostic techniques, these disorders have become a group of important disorders and all the clinicians should pay great attention to these disorders.

Adolescent ; Adult ; Agammaglobulinemia ; epidemiology ; immunology ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Hospitals ; Humans ; Immunologic Deficiency Syndromes ; classification ; diagnosis ; epidemiology ; immunology ; Incidence ; Infant ; Infant, Newborn ; Male ; Registries ; Retrospective Studies ; Risk Factors ; Severe Combined Immunodeficiency ; epidemiology ; immunology ; Sex Factors ; Time Factors

OBJECTIVETo evaluate the feasibility and characteristics of human engraftment in HLA disparate cord blood transplantation.

METHODSTwo human HLA-haploidentical or HLA-mismatched cord blood units were transplanted into sublethally irradiated severe combined immunodeficiency (SCID) mice. The characteristics of engraftment, hematopoietic and immunological reconstitution between the two groups were compared.

RESULTSTwo mixed cord blood units can engraft in SCID mice with donor-recipient chimerism and reconstitute hematopoiesis and immunological functions. No unfavorable factors had been observed. Only one of the two cord blood units which had higher colony forming ability in vitro could engraft in most SCID mice as shown by HLA-DQB(1) gene detection. Two HLA-haploidentical cord blood units were simultaneously engrafted in 3 SCID mice.

CONCLUSIONDouble HLA-haploidentical or HLA-mismatched cord blood can engraft in SCID mice and reconstitute hematopoietic and immunological functions. HLA disparity has no significant effect on survival and engrafting rate. However, in less HLA disparity group, two cord blood units were prone to engraft simultaneously.

Animals ; Antigens, CD ; immunology ; Cord Blood Stem Cell Transplantation ; methods ; Disease Models, Animal ; Female ; Fetal Blood ; immunology ; metabolism ; Flow Cytometry ; HLA Antigens ; genetics ; immunology ; Hematopoiesis ; Humans ; Mice ; Mice, SCID ; Random Allocation ; Severe Combined Immunodeficiency ; immunology ; physiopathology ; surgery ; Survival Analysis ; Transplantation, Heterologous

Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG)vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonography and CT scanning revealed multiple nodules in the spleen, and porto-caval lymphadenopathy.
*BCG Vaccine ; Case Report ; Female ; Human ; Infant ; Mycobacterium bovis ; Severe Combined Immunodeficiency/*immunology ; Tomography, X-Ray Computed ; Tuberculosis/*immunology/radiography/ultrasonography

Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG)vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonography and CT scanning revealed multiple nodules in the spleen, and porto-caval lymphadenopathy.
*BCG Vaccine ; Case Report ; Female ; Human ; Infant ; Mycobacterium bovis ; Severe Combined Immunodeficiency/*immunology ; Tomography, X-Ray Computed ; Tuberculosis/*immunology/radiography/ultrasonography