PEDIATRIC PATIENT WITH BOTH LEUKOCYTE ADHESION DEFICIENCY II AND BOMBAY BLOOD GROUP
(Abstract release date: 05/19/16)
EHA Library. Yaman Y. 06/09/16; 135128; PB2228
Dr. Yöntem Yaman
Contributions
Contributions
Abstract
Abstract: PB2228
Type: Publication Only
Background
Leukocyte adhesion deficiency type II (LAD II) is a rare autosomal recessive inherited immunodeficiency disease that induces frequent, recurrent infections, persistent leukocytosis, severe mental and growth retardation and impaired wound healing. Therewithal, Bombay blood group is rare phenotype that is characterized by deficiency of H, A and B antigens on red cell surface.
Aims
LAD II and Bombay blood group have rarely been present together because both of them associated with a global defect in common pathway of fucose metabolism.
Methods
11-year-old boy was evaluated due to diarrhea. He was born to healthy first degree consanguineous parents at term with a birth weight of 1.250 gr (<3th). He had a history of hospitalization for intrauterine growth retardation during first three weeks of life. As an infant, he suffered from delayed separation of the umbilical cord. He developed multiple recurrence infections such as pneumonia, diarrhea, fever and recurence skin abscess. On the examination, his height and weight were both below the third percentile for age. He had 2 cm of hepatomegaly and 4 cm of splenomegaly. Physical examination revealed the dysmorphic features such as coarse facial appearance, flattened nose, long prominent philtrum. He had numerous scars of abscess in the bilateral inguinale region. On neurological examination, he had severe growth and psychomotor retardation (Figure 1). İnitial laboratory evaluation revealed elevated white blood cell count (72.1x103/µL) with neutrophilia (80% neutrophils, 20% lymphocytes). His hemoglobin level was 11.6 g/dL and his platelet was 456,000/mm3. The other blood parameters of the patient were normale. His disease was identified Leukocyte Adhesion Deficiency (LAD) which was characterized by recurrent infections, persistent leukocytosis, delayed separation of the umbilical cord and severe mental and growth retardation.
Results
The presence of Lea, Leb, and H antigens on the erythrocytes of patient was investigated by hemagglutination tests performed with commercial monoclonal antiserums (ALBAclone, Alba Bioscience, United Kingdom) derived from mouse. At same hospital, his blood grouping was again interpreted as O Rh D positive by the ABO and Rh typing on gel card. Forward reverse grouping on tube showed the blood group to be O Rh D positive. Indirect Coomb’s Test and antibody screening was 4+ reactivity, direct Coomb’s Test (DCT) of patient was negative. It was found to be incompatible with strength of 4+ agglutination in all cross match by reverse analysis conducted with erythrocytes of A1, A2, B and O blood group. Reaction with anti H lectin was negative. The blood group was finally interpreted as Bombay blood group with naturally occuring anti-H antibodies in plasma. The moleculer basis of LAD II was demonstrated according flow cytometric results; the deficient expression of the CD15 adhesion molecules on the surface of leukocytes while expression LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150/95 (CD11c/CD18) are normal.
Conclusion
When a patient with Bombay Phenomenon is detected, the investigation for leukocyte adhesion deficiency type 2 must been done.
Session topic: E-poster
Keyword(s): Blood transfusion, Immune deficiency
Type: Publication Only
Background
Leukocyte adhesion deficiency type II (LAD II) is a rare autosomal recessive inherited immunodeficiency disease that induces frequent, recurrent infections, persistent leukocytosis, severe mental and growth retardation and impaired wound healing. Therewithal, Bombay blood group is rare phenotype that is characterized by deficiency of H, A and B antigens on red cell surface.
Aims
LAD II and Bombay blood group have rarely been present together because both of them associated with a global defect in common pathway of fucose metabolism.
Methods
11-year-old boy was evaluated due to diarrhea. He was born to healthy first degree consanguineous parents at term with a birth weight of 1.250 gr (<3th). He had a history of hospitalization for intrauterine growth retardation during first three weeks of life. As an infant, he suffered from delayed separation of the umbilical cord. He developed multiple recurrence infections such as pneumonia, diarrhea, fever and recurence skin abscess. On the examination, his height and weight were both below the third percentile for age. He had 2 cm of hepatomegaly and 4 cm of splenomegaly. Physical examination revealed the dysmorphic features such as coarse facial appearance, flattened nose, long prominent philtrum. He had numerous scars of abscess in the bilateral inguinale region. On neurological examination, he had severe growth and psychomotor retardation (Figure 1). İnitial laboratory evaluation revealed elevated white blood cell count (72.1x103/µL) with neutrophilia (80% neutrophils, 20% lymphocytes). His hemoglobin level was 11.6 g/dL and his platelet was 456,000/mm3. The other blood parameters of the patient were normale. His disease was identified Leukocyte Adhesion Deficiency (LAD) which was characterized by recurrent infections, persistent leukocytosis, delayed separation of the umbilical cord and severe mental and growth retardation.
Results
The presence of Lea, Leb, and H antigens on the erythrocytes of patient was investigated by hemagglutination tests performed with commercial monoclonal antiserums (ALBAclone, Alba Bioscience, United Kingdom) derived from mouse. At same hospital, his blood grouping was again interpreted as O Rh D positive by the ABO and Rh typing on gel card. Forward reverse grouping on tube showed the blood group to be O Rh D positive. Indirect Coomb’s Test and antibody screening was 4+ reactivity, direct Coomb’s Test (DCT) of patient was negative. It was found to be incompatible with strength of 4+ agglutination in all cross match by reverse analysis conducted with erythrocytes of A1, A2, B and O blood group. Reaction with anti H lectin was negative. The blood group was finally interpreted as Bombay blood group with naturally occuring anti-H antibodies in plasma. The moleculer basis of LAD II was demonstrated according flow cytometric results; the deficient expression of the CD15 adhesion molecules on the surface of leukocytes while expression LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150/95 (CD11c/CD18) are normal.
Conclusion
When a patient with Bombay Phenomenon is detected, the investigation for leukocyte adhesion deficiency type 2 must been done.
Session topic: E-poster
Keyword(s): Blood transfusion, Immune deficiency
Abstract: PB2228
Type: Publication Only
Background
Leukocyte adhesion deficiency type II (LAD II) is a rare autosomal recessive inherited immunodeficiency disease that induces frequent, recurrent infections, persistent leukocytosis, severe mental and growth retardation and impaired wound healing. Therewithal, Bombay blood group is rare phenotype that is characterized by deficiency of H, A and B antigens on red cell surface.
Aims
LAD II and Bombay blood group have rarely been present together because both of them associated with a global defect in common pathway of fucose metabolism.
Methods
11-year-old boy was evaluated due to diarrhea. He was born to healthy first degree consanguineous parents at term with a birth weight of 1.250 gr (<3th). He had a history of hospitalization for intrauterine growth retardation during first three weeks of life. As an infant, he suffered from delayed separation of the umbilical cord. He developed multiple recurrence infections such as pneumonia, diarrhea, fever and recurence skin abscess. On the examination, his height and weight were both below the third percentile for age. He had 2 cm of hepatomegaly and 4 cm of splenomegaly. Physical examination revealed the dysmorphic features such as coarse facial appearance, flattened nose, long prominent philtrum. He had numerous scars of abscess in the bilateral inguinale region. On neurological examination, he had severe growth and psychomotor retardation (Figure 1). İnitial laboratory evaluation revealed elevated white blood cell count (72.1x103/µL) with neutrophilia (80% neutrophils, 20% lymphocytes). His hemoglobin level was 11.6 g/dL and his platelet was 456,000/mm3. The other blood parameters of the patient were normale. His disease was identified Leukocyte Adhesion Deficiency (LAD) which was characterized by recurrent infections, persistent leukocytosis, delayed separation of the umbilical cord and severe mental and growth retardation.
Results
The presence of Lea, Leb, and H antigens on the erythrocytes of patient was investigated by hemagglutination tests performed with commercial monoclonal antiserums (ALBAclone, Alba Bioscience, United Kingdom) derived from mouse. At same hospital, his blood grouping was again interpreted as O Rh D positive by the ABO and Rh typing on gel card. Forward reverse grouping on tube showed the blood group to be O Rh D positive. Indirect Coomb’s Test and antibody screening was 4+ reactivity, direct Coomb’s Test (DCT) of patient was negative. It was found to be incompatible with strength of 4+ agglutination in all cross match by reverse analysis conducted with erythrocytes of A1, A2, B and O blood group. Reaction with anti H lectin was negative. The blood group was finally interpreted as Bombay blood group with naturally occuring anti-H antibodies in plasma. The moleculer basis of LAD II was demonstrated according flow cytometric results; the deficient expression of the CD15 adhesion molecules on the surface of leukocytes while expression LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150/95 (CD11c/CD18) are normal.
Conclusion
When a patient with Bombay Phenomenon is detected, the investigation for leukocyte adhesion deficiency type 2 must been done.
Session topic: E-poster
Keyword(s): Blood transfusion, Immune deficiency
Type: Publication Only
Background
Leukocyte adhesion deficiency type II (LAD II) is a rare autosomal recessive inherited immunodeficiency disease that induces frequent, recurrent infections, persistent leukocytosis, severe mental and growth retardation and impaired wound healing. Therewithal, Bombay blood group is rare phenotype that is characterized by deficiency of H, A and B antigens on red cell surface.
Aims
LAD II and Bombay blood group have rarely been present together because both of them associated with a global defect in common pathway of fucose metabolism.
Methods
11-year-old boy was evaluated due to diarrhea. He was born to healthy first degree consanguineous parents at term with a birth weight of 1.250 gr (<3th). He had a history of hospitalization for intrauterine growth retardation during first three weeks of life. As an infant, he suffered from delayed separation of the umbilical cord. He developed multiple recurrence infections such as pneumonia, diarrhea, fever and recurence skin abscess. On the examination, his height and weight were both below the third percentile for age. He had 2 cm of hepatomegaly and 4 cm of splenomegaly. Physical examination revealed the dysmorphic features such as coarse facial appearance, flattened nose, long prominent philtrum. He had numerous scars of abscess in the bilateral inguinale region. On neurological examination, he had severe growth and psychomotor retardation (Figure 1). İnitial laboratory evaluation revealed elevated white blood cell count (72.1x103/µL) with neutrophilia (80% neutrophils, 20% lymphocytes). His hemoglobin level was 11.6 g/dL and his platelet was 456,000/mm3. The other blood parameters of the patient were normale. His disease was identified Leukocyte Adhesion Deficiency (LAD) which was characterized by recurrent infections, persistent leukocytosis, delayed separation of the umbilical cord and severe mental and growth retardation.
Results
The presence of Lea, Leb, and H antigens on the erythrocytes of patient was investigated by hemagglutination tests performed with commercial monoclonal antiserums (ALBAclone, Alba Bioscience, United Kingdom) derived from mouse. At same hospital, his blood grouping was again interpreted as O Rh D positive by the ABO and Rh typing on gel card. Forward reverse grouping on tube showed the blood group to be O Rh D positive. Indirect Coomb’s Test and antibody screening was 4+ reactivity, direct Coomb’s Test (DCT) of patient was negative. It was found to be incompatible with strength of 4+ agglutination in all cross match by reverse analysis conducted with erythrocytes of A1, A2, B and O blood group. Reaction with anti H lectin was negative. The blood group was finally interpreted as Bombay blood group with naturally occuring anti-H antibodies in plasma. The moleculer basis of LAD II was demonstrated according flow cytometric results; the deficient expression of the CD15 adhesion molecules on the surface of leukocytes while expression LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), p150/95 (CD11c/CD18) are normal.
Conclusion
When a patient with Bombay Phenomenon is detected, the investigation for leukocyte adhesion deficiency type 2 must been done.
Session topic: E-poster
Keyword(s): Blood transfusion, Immune deficiency
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