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Antibody Deficiency due to Defect in CD19
autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammation, Immune Dysregulation, and Eosinophilia
autoinflammatory disease +
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
C9 Deficiency with Dermatomyositis
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cd4+ Lymphocyte Deficiency
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Davenport Donlan Syndrome
Deltaretrovirus Infections +
dendritic cell deficiency +
ectodermal dysplasia and immune deficiency + An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. (DO)
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Gastrointestinal defects and immunodeficiency syndrome +
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
hepatic venoocclusive disease with immunodeficiency
human immunodeficiency virus infectious disease +
Hypoglobulinemia and Absent B Cells
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 121 with autoinflammation
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Inosine Phosphorylase Deficiency, Immune Defect Due To
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
NEMO Mutation with Immunodeficiency
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
phagocyte bactericidal dysfunction +
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Lymphoid System Deterioration
Roifman-Chitayat Syndrome
Schimke immuno-osseous dysplasia
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Thumb Agenesis, Short Stature, and Immunodeficiency
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
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