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Antibody Deficiency due to Defect in CD19
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
Autoinflammation, Immunde Dysregulation, and Eosinophilia
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
autosomal dominant familial periodic fever
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 +
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
familial Behcet-like autoinflammatory syndrome
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
hepatic venoocclusive disease with immunodeficiency
human immunodeficiency virus infectious disease +
Hypoglobulinemia and Absent B Cells
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 84 An autosomal recessive primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. Caused by heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (OMIM)
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
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
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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